This document provides guidance on evaluating and classifying different types of myopathies. It discusses approaches to hereditary and acquired myopathies and examines various features in the history, exam, workup, and classification of myopathies. Key types discussed include various muscular dystrophies like Duchenne MD, Becker MD, Emery-Dreifuss MD, limb girdle dystrophy, congenital muscular dystrophy, facioscapulohumeral dystrophy, and myotonic dystrophy. Evaluation involves assessing onset age, distribution of weakness, inheritance pattern, and utilizing testing such as muscle enzymes, EMGs, muscle biopsies and genetic studies.
Muscle channelopathies are a group of rare inherited diseases caused by mutations in muscle ion channels. The document discusses several types of muscle channelopathies including non-dystrophic myotonias (myotonia congenita, paramyotonia congenita, sodium channel myotonia), and periodic paralyses (hypokalemic periodic paralysis, hyperkalemic periodic paralysis, thyrotoxic periodic paralysis). The key clinical features, genetics, pathophysiology, investigations, and management are described for each condition. Muscle channelopathies are characterized by episodic muscle stiffness, weakness, or paralysis triggered by factors like rest, exercise, cold, or meals and can be diagnosed via genetic testing and electrodiagnostic studies
Myotonic dystrophy is a genetic multisystemic disease characterized by muscle wasting, myotonia, cataracts and heart defects. There are two main types: DM1 caused by CTG repeats on chromosome 19, and DM2 caused by CCTG repeats on chromosome 21. Symptoms range from mild myotonia to severe congenital weakness. Diagnosis involves muscle biopsy, EMG, ECG and MRI. While there is no cure, treatment focuses on symptom relief using medications, physical therapy and surgery.
Myotonic dystrophy, also known as Steinert's disease, is a form of muscular dystrophy characterized by muscle stiffness and weakness due to an inability to relax muscles voluntarily. It is caused by a mutation in the DMPK gene on chromosome 19 that results in an abnormal expansion of cytosine-thymine-guanine triplet repeats. There is no cure for myotonic dystrophy, but treatment aims to maintain muscle strength and function through exercises, posture changes, and sometimes surgery.
1. Marfan syndrome is an inherited disorder of connective tissue that affects many parts of the body, including the skeletal, ocular, cardiovascular and pulmonary systems.
2. It is caused by mutations in the FBN1 gene which results in abnormal fibrillin protein and connective tissue abnormalities.
3. Diagnosis is based on assessments of the skeletal, ocular, cardiovascular and other body systems compared to established diagnostic criteria such as the Ghent nosology, with a focus on assessments of the aorta and lenses.
Botulinum toxin was first recognized as having therapeutic potential in 1817 and was approved by the FDA to treat various medical conditions in 1989 and 2000. It is used to treat muscle spasms, involuntary movements, inappropriate muscle contractions, and other applications. Its mechanism of action involves blocking the release of acetylcholine at the neuromuscular junction. It has been shown to improve health-related quality of life, though it can cause local muscle weakness and is expensive.
This document provides information about myotonic dystrophy (DM), a hereditary progressive muscle disease. There are two main types, DM1 and DM2. DM is caused by an expanded CTG repeat in the DMPK gene on chromosome 19, while DM2 is caused by a similar mutation in the CNBP gene on chromosome 3. Symptoms vary but can include myotonia, muscle weakness, cataracts, and arrhythmias. There is no cure, but treatment focuses on managing symptoms and surveillance of complications.
Wallenberg syndrome, also known as lateral medullary infarction, is caused by occlusion of the posterior inferior cerebellar artery, which supplies blood to the lateral medulla. This leads to vertigo, abnormal eye movements, Horner's syndrome on one side, ataxia of the limb on the same side, and dissociated sensory loss. The condition is usually due to atherosclerosis but can also result from traumatic vertebral artery dissection. MRI and MRA are used to diagnose the infraction and rule out arterial dissection.
Muscle channelopathies are a group of rare inherited diseases caused by mutations in muscle ion channels. The document discusses several types of muscle channelopathies including non-dystrophic myotonias (myotonia congenita, paramyotonia congenita, sodium channel myotonia), and periodic paralyses (hypokalemic periodic paralysis, hyperkalemic periodic paralysis, thyrotoxic periodic paralysis). The key clinical features, genetics, pathophysiology, investigations, and management are described for each condition. Muscle channelopathies are characterized by episodic muscle stiffness, weakness, or paralysis triggered by factors like rest, exercise, cold, or meals and can be diagnosed via genetic testing and electrodiagnostic studies
Myotonic dystrophy is a genetic multisystemic disease characterized by muscle wasting, myotonia, cataracts and heart defects. There are two main types: DM1 caused by CTG repeats on chromosome 19, and DM2 caused by CCTG repeats on chromosome 21. Symptoms range from mild myotonia to severe congenital weakness. Diagnosis involves muscle biopsy, EMG, ECG and MRI. While there is no cure, treatment focuses on symptom relief using medications, physical therapy and surgery.
Myotonic dystrophy, also known as Steinert's disease, is a form of muscular dystrophy characterized by muscle stiffness and weakness due to an inability to relax muscles voluntarily. It is caused by a mutation in the DMPK gene on chromosome 19 that results in an abnormal expansion of cytosine-thymine-guanine triplet repeats. There is no cure for myotonic dystrophy, but treatment aims to maintain muscle strength and function through exercises, posture changes, and sometimes surgery.
1. Marfan syndrome is an inherited disorder of connective tissue that affects many parts of the body, including the skeletal, ocular, cardiovascular and pulmonary systems.
2. It is caused by mutations in the FBN1 gene which results in abnormal fibrillin protein and connective tissue abnormalities.
3. Diagnosis is based on assessments of the skeletal, ocular, cardiovascular and other body systems compared to established diagnostic criteria such as the Ghent nosology, with a focus on assessments of the aorta and lenses.
Botulinum toxin was first recognized as having therapeutic potential in 1817 and was approved by the FDA to treat various medical conditions in 1989 and 2000. It is used to treat muscle spasms, involuntary movements, inappropriate muscle contractions, and other applications. Its mechanism of action involves blocking the release of acetylcholine at the neuromuscular junction. It has been shown to improve health-related quality of life, though it can cause local muscle weakness and is expensive.
This document provides information about myotonic dystrophy (DM), a hereditary progressive muscle disease. There are two main types, DM1 and DM2. DM is caused by an expanded CTG repeat in the DMPK gene on chromosome 19, while DM2 is caused by a similar mutation in the CNBP gene on chromosome 3. Symptoms vary but can include myotonia, muscle weakness, cataracts, and arrhythmias. There is no cure, but treatment focuses on managing symptoms and surveillance of complications.
Wallenberg syndrome, also known as lateral medullary infarction, is caused by occlusion of the posterior inferior cerebellar artery, which supplies blood to the lateral medulla. This leads to vertigo, abnormal eye movements, Horner's syndrome on one side, ataxia of the limb on the same side, and dissociated sensory loss. The condition is usually due to atherosclerosis but can also result from traumatic vertebral artery dissection. MRI and MRA are used to diagnose the infraction and rule out arterial dissection.
The document discusses myotonia, which is delayed relaxation of muscles after contraction. It is caused by repetitive depolarization of muscle membranes due to increased excitability from dysfunction of muscle ion channels. Clinically, myotonia is demonstrated using grip and percussion tests. Electrically, it appears as repetitive discharges on EMG. Causes include muscular dystrophies, channelopathies, metabolic myopathies and others. Myotonic dystrophy type 1 is the most common and has distinctive features including myotonia, weakness, cataracts and cardiac issues. Diagnosis involves EMG, muscle biopsy and genetic testing.
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by benign tumors that develop in many organs, including the brain, eyes, heart, lungs, kidneys and skin. It is caused by mutations in either the TSC1 or TSC2 gene. Major features seen on imaging include cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas. These lesions appear at specific locations and with characteristic appearances on CT and MRI scans that are useful for diagnosis. Treatment may involve medication or surgery depending on the impact of the lesions.
The document provides information about EEGs and EMGs. It defines EEG as recording electrical activity of the brain from the scalp and notes its history and applications in diagnosing conditions like epilepsy. It describes different brain waves seen in EEGs including alpha, beta, theta, and delta waves and their characteristics. It also summarizes sleep cycles and brain waves associated with each stage of sleep. The document then discusses EMG and how it records muscle activity through motor units. It notes the techniques of surface EMG and intramuscular EMG and what abnormalities in spontaneous activity or motor unit potentials can indicate.
This document provides information about Perthes' disease, including:
- It is characterized by avascular necrosis of the femoral head in children.
- Risk factors include being male and between ages 5-10 years old.
- Imaging studies like x-rays are used to diagnose and monitor the stages of avascular necrosis, fragmentation, ossification, and remodeling.
- Differential diagnosis depends on whether the condition is unilateral or bilateral.
- Treatment aims to prevent deformity through nonsurgical or surgical methods depending on the severity.
This document describes various eponymous fractures, including the bone involved, location of the fracture, and typical mechanism of injury. Some examples are:
- Bankart's fracture involves the anterior glenoid labrum from shoulder dislocation.
- Barton's fracture is an intra-articular fracture of the distal radius with radiocarpal dislocation from a fall on an outstretched hand.
- Bennett's fracture involves the base of the first metacarpal bone extending into the carpometacarpal joint from an axial load on the partially flexed thumb.
- Bosworth fracture is a rare fracture of the distal fibula with posterior dislocation of the proximal fibular fragment trapped behind the
This document discusses the evaluation of a floppy infant. It begins by defining a floppy infant as one presenting with generalized hypotonia, often arising from an insult during the fetal or neonatal period. It describes the clinical examination of a floppy infant and differential diagnosis, which includes central nervous system causes, spinal cord disorders, peripheral nerve disorders, neuromuscular transmission defects, muscle diseases, and systemic disorders. Key examination findings that help localize the cause of hypotonia are discussed. Common etiologies like cerebral palsy, spinal muscular atrophy, and myasthenia gravis are also summarized.
The document discusses hypotonia in infants, which is a decreased resistance of muscles to stretch. It can be caused by central nervous system issues or peripheral motor neuron/muscle disorders. Key signs of central hypotonia include normal or brisk reflexes and cognitive/social impairment. Peripheral hypotonia is suggested by reduced reflexes, facial weakness, and relatively normal cognition. Differential diagnosis involves assessing patterns of weakness, family history, and specialized tests. Thorough neurological exam and investigations are needed to identify the specific cause.
Myotonic dystrophy is a genetic, inherited disorder that affects muscles and other body systems. There are two main types: DM1 and DM2. DM1 is caused by a mutation in the DMPK gene and is characterized by myotonia, muscle weakness, cataracts, cardiac issues, and more severe symptoms. Symptoms range from mild to severe depending on the number of DNA repeats involved. It is inherited in an autosomal dominant pattern. There is currently no cure and treatment focuses on managing symptoms.
Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by mutations in the dystrophin gene leading to progressive muscle weakness. It mainly affects boys and symptoms start between ages 2-3. Affected children become wheelchair bound by age 12 and have life-threatening heart, respiratory, and orthopedic complications if not properly managed. Management involves monitoring for cardiomyopathy, respiratory support, orthopedic care, corticosteroids which can prolong ambulation, and future therapies like gene therapy aim to treat the underlying genetic cause.
This document discusses the approach to evaluating children presenting with developmental regression. It defines developmental regression as the loss of developmental milestones previously attained, indicating a progressive nervous system disease. The evaluation involves a detailed history, developmental assessment, neurological exam, and targeted investigations to identify underlying genetic, metabolic, or acquired etiologies and guide management. A multidisciplinary approach is emphasized to address developmental delays, seizures, contractures, feeding issues, and provide genetic counseling.
Pituitary adenoma is a benign tumor that occurs in the pituitary gland. It accounts for 10-15% of all intracranial tumors. Risk factors include genetic conditions such as MEN type 1 and Carney complex. Clinical manifestations vary depending on the hormones affected but can include headaches, visual defects, and hormonal imbalances. Diagnosis is confirmed through blood tests of pituitary hormone levels and radiographic imaging of the pituitary gland. Treatment options involve surgery, radiation therapy, or medical therapy depending on the type and size of the tumor. Complications may include vision loss, hormone deficiencies, and pituitary apoplexy.
Floppy infant syndrome is caused by conditions affecting the central nervous system, spinal cord, neuromuscular junction, muscles or peripheral nerves. Key features include generalized hypotonia and weakness, with varying involvement of face, arms and legs depending on the site of involvement. Spinal muscular atrophy is a genetic disorder causing degeneration of motor neurons leading to weakness. Myasthenia gravis is an immune disorder causing weakness through antibodies blocking acetylcholine receptors.
Tuberous sclerosis is a genetic disorder characterized by the growth of noncancerous tumors in multiple organs like the skin, brain, kidneys, and heart. It is caused by mutations in either the TSC1 or TSC2 genes. The signs and symptoms vary between people but can include skin abnormalities like hypomelanotic macules, facial angiofibromas, and shagreen patches. Neurological effects include seizures, developmental delays, and noncancerous brain tumors like subependymal nodules and subependymal giant cell astrocytomas. It has an autosomal dominant inheritance pattern and affects approximately 1 in 6,000 newborns. While there is no cure, treatment focuses
The document discusses various syndromes of the spinal cord including complete and incomplete cord syndromes. It describes Brown-Sequard syndrome, central cord syndrome, anterior cord syndrome, posterior cord syndrome, and conus medullaris syndrome. Complete cord transection results in paralysis, sensory loss, and autonomic dysfunction below the level of injury. Incomplete syndromes can cause varying degrees of motor weakness, sensory loss, and autonomic dysfunction depending on the areas of the spinal cord affected. Specific vascular, inflammatory, and traumatic causes are discussed for each syndrome.
The plantar reflex is an important superficial reflex that involves polysynaptic pathways. A normal plantar reflex results in flexion of the toes when the sole is scratched, while an extensor plantar response (Babinski's sign) involves dorsiflexion of the great toe and fanning of the other toes and suggests corticospinal tract dysfunction. There are several methods to elicit the plantar reflex and variations in responses provide information about neurological conditions.
Due to stretching forces placed on individual nerve cells
Pathology distributed throughout brain
Types
Concussion
Diffuse Axonal Injury (Moderate to Severe)
Spinal shock is the immediate temporary loss of total power, sensation and reflexes below the level of a spinal cord injury. It occurs in four phases as the spinal cord recovers. Phase 1 is complete areflexia lasting 1-3 days due to loss of descending facilitation. Phase 2 sees initial reflex return from denervation supersensitivity. Phases 3-4 involve hyperreflexia and spasticity as the cord grows new synapses. Spinal shock is managed by immobilization, monitoring, and high-dose methylprednisolone to prevent secondary injury if given within 3 hours of the initial trauma.
This document discusses osteitis fibrosa cystica (OFC), a rare bone disease caused by hyperparathyroidism. It defines OFC as a loss of bone mass replaced by fibrous tissue. Clinical features include bone pain, fractures, and brown tumors. Diagnosis involves lab tests showing high calcium and PTH levels. Treatment is typically parathyroidectomy to remove the overactive parathyroid gland(s), which can reverse bone changes. Prognosis is good if caught early and treated with surgery.
This document discusses Myasthenia Gravis, an autoimmune disorder where antibodies are produced against acetylcholine receptors at the neuromuscular junction. This leads to loss of functional acetylcholine receptors and weakness of muscles. Symptoms include fatigue of muscles that worsens with use and improves with rest. Early symptoms often involve the eyes, face, and throat. Later the limbs may be involved. Treatment focuses on increasing acetylcholine activity and decreasing the immune attack on motor end plates using anticholinesterase medications, immunosuppressants, plasmapheresis, and sometimes thymectomy. Classification is based on symptoms and presence of crisis requiring ventilation.
The document discusses myotonia, which is delayed relaxation of muscles after contraction. It is caused by repetitive depolarization of muscle membranes due to increased excitability from dysfunction of muscle ion channels. Clinically, myotonia is demonstrated using grip and percussion tests. Electrically, it appears as repetitive discharges on EMG. Causes include muscular dystrophies, channelopathies, metabolic myopathies and others. Myotonic dystrophy type 1 is the most common and has distinctive features including myotonia, weakness, cataracts and cardiac issues. Diagnosis involves EMG, muscle biopsy and genetic testing.
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by benign tumors that develop in many organs, including the brain, eyes, heart, lungs, kidneys and skin. It is caused by mutations in either the TSC1 or TSC2 gene. Major features seen on imaging include cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas. These lesions appear at specific locations and with characteristic appearances on CT and MRI scans that are useful for diagnosis. Treatment may involve medication or surgery depending on the impact of the lesions.
The document provides information about EEGs and EMGs. It defines EEG as recording electrical activity of the brain from the scalp and notes its history and applications in diagnosing conditions like epilepsy. It describes different brain waves seen in EEGs including alpha, beta, theta, and delta waves and their characteristics. It also summarizes sleep cycles and brain waves associated with each stage of sleep. The document then discusses EMG and how it records muscle activity through motor units. It notes the techniques of surface EMG and intramuscular EMG and what abnormalities in spontaneous activity or motor unit potentials can indicate.
This document provides information about Perthes' disease, including:
- It is characterized by avascular necrosis of the femoral head in children.
- Risk factors include being male and between ages 5-10 years old.
- Imaging studies like x-rays are used to diagnose and monitor the stages of avascular necrosis, fragmentation, ossification, and remodeling.
- Differential diagnosis depends on whether the condition is unilateral or bilateral.
- Treatment aims to prevent deformity through nonsurgical or surgical methods depending on the severity.
This document describes various eponymous fractures, including the bone involved, location of the fracture, and typical mechanism of injury. Some examples are:
- Bankart's fracture involves the anterior glenoid labrum from shoulder dislocation.
- Barton's fracture is an intra-articular fracture of the distal radius with radiocarpal dislocation from a fall on an outstretched hand.
- Bennett's fracture involves the base of the first metacarpal bone extending into the carpometacarpal joint from an axial load on the partially flexed thumb.
- Bosworth fracture is a rare fracture of the distal fibula with posterior dislocation of the proximal fibular fragment trapped behind the
This document discusses the evaluation of a floppy infant. It begins by defining a floppy infant as one presenting with generalized hypotonia, often arising from an insult during the fetal or neonatal period. It describes the clinical examination of a floppy infant and differential diagnosis, which includes central nervous system causes, spinal cord disorders, peripheral nerve disorders, neuromuscular transmission defects, muscle diseases, and systemic disorders. Key examination findings that help localize the cause of hypotonia are discussed. Common etiologies like cerebral palsy, spinal muscular atrophy, and myasthenia gravis are also summarized.
The document discusses hypotonia in infants, which is a decreased resistance of muscles to stretch. It can be caused by central nervous system issues or peripheral motor neuron/muscle disorders. Key signs of central hypotonia include normal or brisk reflexes and cognitive/social impairment. Peripheral hypotonia is suggested by reduced reflexes, facial weakness, and relatively normal cognition. Differential diagnosis involves assessing patterns of weakness, family history, and specialized tests. Thorough neurological exam and investigations are needed to identify the specific cause.
Myotonic dystrophy is a genetic, inherited disorder that affects muscles and other body systems. There are two main types: DM1 and DM2. DM1 is caused by a mutation in the DMPK gene and is characterized by myotonia, muscle weakness, cataracts, cardiac issues, and more severe symptoms. Symptoms range from mild to severe depending on the number of DNA repeats involved. It is inherited in an autosomal dominant pattern. There is currently no cure and treatment focuses on managing symptoms.
Duchenne Muscular Dystrophy (DMD) is a genetic disorder caused by mutations in the dystrophin gene leading to progressive muscle weakness. It mainly affects boys and symptoms start between ages 2-3. Affected children become wheelchair bound by age 12 and have life-threatening heart, respiratory, and orthopedic complications if not properly managed. Management involves monitoring for cardiomyopathy, respiratory support, orthopedic care, corticosteroids which can prolong ambulation, and future therapies like gene therapy aim to treat the underlying genetic cause.
This document discusses the approach to evaluating children presenting with developmental regression. It defines developmental regression as the loss of developmental milestones previously attained, indicating a progressive nervous system disease. The evaluation involves a detailed history, developmental assessment, neurological exam, and targeted investigations to identify underlying genetic, metabolic, or acquired etiologies and guide management. A multidisciplinary approach is emphasized to address developmental delays, seizures, contractures, feeding issues, and provide genetic counseling.
Pituitary adenoma is a benign tumor that occurs in the pituitary gland. It accounts for 10-15% of all intracranial tumors. Risk factors include genetic conditions such as MEN type 1 and Carney complex. Clinical manifestations vary depending on the hormones affected but can include headaches, visual defects, and hormonal imbalances. Diagnosis is confirmed through blood tests of pituitary hormone levels and radiographic imaging of the pituitary gland. Treatment options involve surgery, radiation therapy, or medical therapy depending on the type and size of the tumor. Complications may include vision loss, hormone deficiencies, and pituitary apoplexy.
Floppy infant syndrome is caused by conditions affecting the central nervous system, spinal cord, neuromuscular junction, muscles or peripheral nerves. Key features include generalized hypotonia and weakness, with varying involvement of face, arms and legs depending on the site of involvement. Spinal muscular atrophy is a genetic disorder causing degeneration of motor neurons leading to weakness. Myasthenia gravis is an immune disorder causing weakness through antibodies blocking acetylcholine receptors.
Tuberous sclerosis is a genetic disorder characterized by the growth of noncancerous tumors in multiple organs like the skin, brain, kidneys, and heart. It is caused by mutations in either the TSC1 or TSC2 genes. The signs and symptoms vary between people but can include skin abnormalities like hypomelanotic macules, facial angiofibromas, and shagreen patches. Neurological effects include seizures, developmental delays, and noncancerous brain tumors like subependymal nodules and subependymal giant cell astrocytomas. It has an autosomal dominant inheritance pattern and affects approximately 1 in 6,000 newborns. While there is no cure, treatment focuses
The document discusses various syndromes of the spinal cord including complete and incomplete cord syndromes. It describes Brown-Sequard syndrome, central cord syndrome, anterior cord syndrome, posterior cord syndrome, and conus medullaris syndrome. Complete cord transection results in paralysis, sensory loss, and autonomic dysfunction below the level of injury. Incomplete syndromes can cause varying degrees of motor weakness, sensory loss, and autonomic dysfunction depending on the areas of the spinal cord affected. Specific vascular, inflammatory, and traumatic causes are discussed for each syndrome.
The plantar reflex is an important superficial reflex that involves polysynaptic pathways. A normal plantar reflex results in flexion of the toes when the sole is scratched, while an extensor plantar response (Babinski's sign) involves dorsiflexion of the great toe and fanning of the other toes and suggests corticospinal tract dysfunction. There are several methods to elicit the plantar reflex and variations in responses provide information about neurological conditions.
Due to stretching forces placed on individual nerve cells
Pathology distributed throughout brain
Types
Concussion
Diffuse Axonal Injury (Moderate to Severe)
Spinal shock is the immediate temporary loss of total power, sensation and reflexes below the level of a spinal cord injury. It occurs in four phases as the spinal cord recovers. Phase 1 is complete areflexia lasting 1-3 days due to loss of descending facilitation. Phase 2 sees initial reflex return from denervation supersensitivity. Phases 3-4 involve hyperreflexia and spasticity as the cord grows new synapses. Spinal shock is managed by immobilization, monitoring, and high-dose methylprednisolone to prevent secondary injury if given within 3 hours of the initial trauma.
This document discusses osteitis fibrosa cystica (OFC), a rare bone disease caused by hyperparathyroidism. It defines OFC as a loss of bone mass replaced by fibrous tissue. Clinical features include bone pain, fractures, and brown tumors. Diagnosis involves lab tests showing high calcium and PTH levels. Treatment is typically parathyroidectomy to remove the overactive parathyroid gland(s), which can reverse bone changes. Prognosis is good if caught early and treated with surgery.
This document discusses Myasthenia Gravis, an autoimmune disorder where antibodies are produced against acetylcholine receptors at the neuromuscular junction. This leads to loss of functional acetylcholine receptors and weakness of muscles. Symptoms include fatigue of muscles that worsens with use and improves with rest. Early symptoms often involve the eyes, face, and throat. Later the limbs may be involved. Treatment focuses on increasing acetylcholine activity and decreasing the immune attack on motor end plates using anticholinesterase medications, immunosuppressants, plasmapheresis, and sometimes thymectomy. Classification is based on symptoms and presence of crisis requiring ventilation.
This document discusses the diagnostic approach to myopathies. It emphasizes that obtaining a comprehensive medical history is very important for diagnosis. The history should clarify the patient's symptoms, any family history of muscle disorders, precipitating factors, associated conditions, and distribution of weakness. Different myopathies are characterized by features like muscle pain, stiffness, weakness, or damage shown by myoglobinuria. Specific myopathies can be suggested based on the pattern of muscle involvement, such as proximal or distal weakness. The document provides tables matching myopathies to various clinical features to guide diagnosis.
MYOPATHIES A SPECIAL AND SEPERATE ENTITY WITH SPECIFIC FEATURES IN EACH DISORDER MAKING US EASY FOR DIAGNOSIS,CONFIRMATION BY MUSCLE BIOPSY.THE SEMINAR WAS PRSENTED ON 06/07/2011...AT 09.00AM
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This document discusses various types of myopathies (disorders affecting muscle). It defines myopathies and distinguishes them from other causes of muscle weakness. It then describes different categories of myopathies including inflammatory myopathies (such as polymyositis and dermatomyositis), muscular dystrophies (such as Duchenne, Becker, limb-girdle, facioscapulohumeral), congenital myopathies, metabolic myopathies, and others. For each type, it discusses inheritance, clinical features, diagnostic criteria, and treatment when available.
The word "myopathy" means disease of the muscle tissue. As the term implies, mitochondrial myopathy (MM) is a neuromuscular disease caused by damage to the mitochondria. Many patients with mitochondrial disease have a mitochondrial myopathy, either as their sole diagnosis or as an additional, descriptive co-diagnosis as part of their mitochondrial disorder. Mitochondrial myopathy may be present in adults and children, and may occur with or without a genetic mitochondrial disease diagnosis. Further, several clinical trials are currently examining the impact of various therapies or potential treatments for people with mitochondrial myopathy.
This document discusses acute onset hemiplegia, including its etiology, symptoms, risk factors, investigation, and treatment. The main causes of acute onset hemiplegia are ischemic stroke and hemorrhagic stroke, which have various underlying etiologies like cardiac disorders, blood disorders, infections, and vascular malformations. Evaluation involves a neurological exam and imaging tests. Treatment depends on the underlying cause but may include medications like anticoagulants, antiplatelets, or immunosuppressants, as well as procedures like neurosurgery or interventional radiology. Outcomes range from full recovery to neurological deficits or mortality in 20-30% of cases.
This document discusses myopathies, which are muscle diseases. It classifies myopathies into hereditary and acquired categories. Hereditary myopathies include muscular dystrophies such as Duchenne's muscular dystrophy. Acquired myopathies can be inflammatory, endocrine, or drug-induced. Duchenne's muscular dystrophy is an X-linked recessive disorder affecting 1 in 3,500 male births. It is caused by a defect in the dystrophin gene and leads to progressive muscle weakness and atrophy. Symptoms begin in early childhood and worsen over time, ultimately resulting in death.
This document discusses several types of muscular dystrophies including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, facioscapulohumeral muscular dystrophy, distal muscular dystrophy, congenital muscular dystrophy, and oculopharyngeal muscular dystrophy. It provides details on the definition, classification, epidemiology, clinical manifestations, diagnosis, treatment and prognosis of each type of muscular dystrophy.
This document provides information on paediatric oncology and various childhood cancers. It discusses that benign tumors are more common than malignant tumors in children, but cancer is a leading cause of death after accidents. The most common malignant tumors in children arise from hematopoietic, nervous and soft tissues. It then describes several specific childhood cancers like acute lymphoblastic leukemia, Wilms tumor, neuroblastoma, Hodgkin's lymphoma, and non-Hodgkin lymphoma. For each cancer, it discusses clinical features, diagnostic evaluation, classification, treatment and prognosis.
This document summarizes several inherited disorders of skeletal muscle including muscular dystrophies like Duchenne and Becker, which are caused by defects in the dystrophin gene and result in progressive muscle weakness. It also describes limb-girdle muscular dystrophy (LGMD), which involves the shoulder and pelvic muscles and can be autosomal dominant or recessive. Congenital muscular dystrophy is also discussed, which causes severe weakness from birth and is linked to defects in proteins important for muscle structure and function like laminin.
Epilepsy is a common neurological illness. Systematic evaluation and management leads to successful outcomes in most patients with epilepsy. Clinical description along with brain imaging and EEG would lead to accurate diagnosis.
This document presents the case of a 72-year-old woman who presented with confusion and back pain. Initial workup revealed anemia, thrombocytopenia, and evidence of bleeding in multiple organs. Testing found elevated globulins and antibodies against platelet and HLA antigens, leading to a diagnosis of immune thrombocytopenic purpura (ITP) refractory to platelet transfusions. Further analysis identified specific antibodies against the patient's husband's HLA antigens from previous pregnancies, explaining her refractoriness to platelet transfusions.
Sensory disturbances can have many causes including MS, peripheral neuropathies, and entrapment neuropathies. It is important to determine the pattern and progression of symptoms, look for associated features, and examine for signs of upper or lower motor neuron involvement. Initial investigations may include blood tests and nerve conduction studies to help characterize the condition. Peripheral neuropathies are often due to diabetes, alcohol use, toxins or genetic factors and entrapment neuropathies commonly affect the median nerve at the carpal tunnel or the ulnar nerve at the elbow.
This document summarizes several types of muscular dystrophies:
- Muscular dystrophies are a group of hereditary progressive muscle diseases with unique genetic and phenotypic features. The main types are sex-linked, autosomal recessive, and autosomal dominant.
- Duchenne muscular dystrophy is an X-linked recessive disorder caused by the absence of dystrophin. It begins in childhood and is characterized by progressive muscle weakness.
- Becker muscular dystrophy is a milder form of X-linked recessive muscular dystrophy. It involves proximal leg muscles and may cause heart failure.
- Myotonic dystrophy is an autosomal dominant disorder causing muscle wasting, weakness, and myotonia
This document provides an overview of magnetic resonance imaging (MRI) and several case examples demonstrating its clinical applications. The key points covered include:
- MRI works by detecting tiny movements of protons in tissue when exposed to magnetic fields. Different sequences like T1 and T2 provide different tissue contrasts.
- Brain MRI is very useful for detecting lesions and assessing anatomy without radiation. Several brain cases demonstrate common conditions like tuberculoma, multiple sclerosis, and mitochondrial disease.
- Spine MRI is now the primary imaging method for evaluating the spine. Examples show common spinal pathologies and the importance of classification of disc abnormalities.
- MRI has many clinical uses beyond the brain and spine, such as cardiac imaging
This document provides information on various types of muscular dystrophy, including Duchenne Muscular Dystrophy (DMD). It discusses the causes, classifications, signs and symptoms, diagnosis, and management of different muscular dystrophies. Specifically for DMD, it describes the genetic basis involving defects in the DMD gene and dystrophin protein, clinical features from early childhood to late stages, and approaches to diagnosis and management focusing on symptom relief and treatment of cardiac and pulmonary complications.
This document discusses Down syndrome, also known as trisomy 21. It is caused by the presence of an extra copy of chromosome 21, either fully or partially. Key points include:
- Down syndrome is the most common chromosomal disorder, occurring in about 1 in 1000 live births worldwide.
- It is characterized by physical features such as a flat facial profile, small ears, an upward slant to the eyes, and intellectual disabilities.
- Individuals with Down syndrome often experience associated medical issues involving the heart, gastrointestinal system, hearing, and vision.
- Management involves screening and monitoring for common complications, providing early intervention services, addressing developmental delays, and connecting families to support groups.
This document provides an overview of geriatric psychiatry, focusing on dementia. It defines dementia and its differential diagnosis, describing the top 10 causes. Alzheimer's disease and vascular dementia are discussed in depth, including their diagnostic criteria, causes, and factors. Other topics summarized include delirium, the effects of ethanol, medical/endocrine influences, and how sensory deficits can impact cognition.
This document discusses various chromosomal anomalies including numeric and structural abnormalities of autosomes and sex chromosomes. It describes common trisomies like Down syndrome, Edward syndrome, and Patau syndrome. It also discusses sex chromosome anomalies such as Turner syndrome, Klinefelter syndrome, and Jacob's syndrome. The physical traits, clinical findings, antenatal ultrasound markers, and radiological features of each condition are provided.
Chromosomal aberrations refer to any deviations in chromosome number or structure. There are two main types: structural aberrations which involve changes in chromosome structure, and numerical aberrations which involve changes in chromosome number. Down syndrome is a common numerical aberration that involves an extra copy of chromosome 21, leading to characteristic physical and developmental features. Its incidence increases with maternal age and it can be diagnosed prenatally through screening tests and confirmed via karyotyping. Management involves counseling, monitoring for common health issues, and early intervention services.
CP is the most common motor disability in childhood. Cerebral means having to do with the brain. Palsy means weakness or problems with using the muscles. CP is caused by abnormal brain development or damage to the developing brain that affects a person's ability to control his or her muscles.
This document discusses muscular dystrophy, including its definition, types, causes, symptoms, diagnosis, and management. The main points are:
1. Muscular dystrophy is a genetic disorder that causes progressive weakness and degeneration in the skeletal muscles. It is caused by deficiencies in dystrophin and other proteins important for muscle fiber integrity.
2. The main types include Duchenne MD, Becker MD, limb-girdle MD, and myotonic dystrophy. They vary in inheritance, onset, muscles affected, and progression.
3. Symptoms depend on the type but generally include muscle weakness, loss of mobility, and contractures. Management focuses on physiotherapy, medications, assistive
Motor neuron diseases are a group of neurodegenerative disorders that affect motor neurons in the brain and spinal cord. The presentation and progression of symptoms varies depending on whether upper motor neurons, lower motor neurons, or both are affected. Amyotrophic lateral sclerosis (ALS) is the most common type of motor neuron disease in adults and causes progressive weakness and atrophy as motor neurons degenerate. While there is no cure for motor neuron diseases, treatment focuses on managing symptoms and maximizing quality of life.
This document discusses muscle diseases and neuromuscular junction disorders. It provides a classification and overview of various myopathies including inherited disorders like muscular dystrophies, glycogen/lipid storage diseases, and mitochondrial diseases. It describes specific muscular dystrophies in detail like Duchenne, Becker, Emery-Dreifuss, and limb girdle muscular dystrophies. Myotonic disorders like myotonic dystrophy and myotonia congenita are also summarized. The document concludes with an overview of myasthenia gravis, describing its pathogenesis, classification, clinical presentation, diagnostic approach, and management.
Hyperkalemia is defined as a plasma potassium level above 5.5 mEq/L. It can be caused by a shift of potassium from intracellular to extracellular space due to acidosis or medications, or inadequate renal excretion due to reduced aldosterone levels or impaired kidney function. Symptoms range from none to muscle weakness or paralysis to cardiac arrhythmias. ECG changes include peaked T waves and prolonged PR interval. Treatment involves calcium to stabilize the heart, insulin or beta-agonists to shift potassium intracellularly, and cation exchange resins, diuretics or hemodialysis to remove excess potassium.
The document discusses the benefits of exercise for mental health. Regular physical activity can help reduce anxiety and depression and improve mood and cognitive functioning. Exercise causes chemical changes in the brain that may help protect against mental illness and improve symptoms.
This document discusses ischemic heart disease and angina. It defines ischemic heart disease as a condition where there is inadequate blood supply and oxygen to the heart muscle. Angina is described as chest pain or discomfort caused by an imbalance between the heart's oxygen supply and demand. The document outlines the causes, types, risk factors, diagnosis, and management of angina through lifestyle modifications and medications like aspirin to control symptoms and reduce health risks.
Hyperkalemia is defined as a plasma potassium level above 5.5 mEq/L. It can be caused by a shift of potassium from intracellular to extracellular space due to acidosis or medications, or inadequate renal excretion due to reduced aldosterone levels or impaired kidney function. Symptoms range from none to muscle weakness or paralysis to cardiac arrhythmias. ECG changes include peaked T waves and prolonged PR interval. Treatment involves calcium to stabilize the heart, insulin or beta-agonists to shift potassium intracellularly, and cation exchange resins, diuretics or hemodialysis to remove excess potassium.
This document discusses chronic kidney disease (CKD), anemia in CKD, and treatments for anemia in CKD. It defines CKD and its stages based on glomerular filtration rate and kidney damage. Anemia in CKD is defined based on hemoglobin levels. Causes of anemia in CKD include relative erythropoietin deficiency, iron deficiency, blood loss, shortened red blood cell lifespan, and the "uremic milieu." Iron therapy and erythropoiesis-stimulating agents (ESAs) are discussed as treatments for anemia in CKD, including criteria for starting therapy, drug options, dosing, monitoring, and dose adjustment.
This document discusses urinary tract infections (UTIs), including their classification, causes, diagnosis, and treatment. UTIs are caused by microorganisms in the urinary tract and are associated with inflammation. They are classified as occurring in the upper urinary tract (kidneys and ureters) or lower urinary tract (bladder and urethra). The most common cause is E. coli bacteria. Diagnosis involves urinalysis and urine culture. Treatment depends on whether the UTI is symptomatic or asymptomatic, and may involve antibiotics, increased fluid intake, or surgery for structural issues.
The document discusses circadian rhythms and chronotherapy. It explains that circadian clocks influence physiology and disease pathology in a time-of-day dependent manner. Drugs have circadian pharmacokinetics due to daily protein oscillations, and circadian pharmacodynamics due to oscillating physiological systems. Chronotherapy aims to optimize drug effects and minimize adverse effects by timing medication administration to biological rhythms.
Beta adrenergic blockers (β-blockers) are a class of drugs that are competitive antagonists of beta-adrenergic receptors. They are used to treat hypertension, ischemic heart disease, cardiac arrhythmias, heart failure, glaucoma, and other conditions. β-blockers are classified as non-selective or cardioselective. Non-selective β-blockers block β1 and β2 receptors, while cardioselective β-blockers selectively block β1 receptors in the heart. β-blockers produce their effects by inhibiting the sympathetic nervous system's stimulation of the heart and circulation. They reduce heart rate, blood pressure, and cardiac contractility, thereby reducing myocardial oxygen demand.
This document summarizes the classification, mechanisms of action, pharmacokinetics, uses, and side effects of α-adrenergic receptor antagonists or α-blockers. It describes non-selective α-blockers that block both α1 and α2 receptors as well as selective α1 and α2 blockers. The main uses of α-blockers include treatment of hypertension, peripheral vascular disease, benign prostatic hyperplasia, pheochromocytoma, and migraine. Common side effects include hypotension, tachycardia, nasal congestion, and sexual dysfunction.
Atropine is the prototype anticholinergic drug that acts as a competitive antagonist at muscarinic receptors. It has widespread therapeutic uses including as a preanesthetic medication, in bronchodilation for asthma and COPD, and to treat gastrointestinal spasms. Many semi-synthetic and synthetic derivatives have been developed with varying selectivities for muscarinic receptor subtypes and tissues. Examples include ipratropium for respiratory conditions, oxybutynin for urinary incontinence, and tropicamide/cyclopentolate as shorter-acting mydriatics. Anticholinergics produce their effects by blocking acetylcholine actions in the central and peripheral nervous systems.
The document discusses adrenoceptor agonists and sympathormimetic drugs. It begins by overviewing the sympathetic nervous system and adrenergic receptors. It then describes the two main types of adrenergic receptors, α and β, which are G protein-coupled receptors. It also discusses the subtypes and selectivity of agonists and antagonists. Finally, it summarizes the organ system effects of sympathormimetic drugs and their mechanisms of action.
This document discusses cholinergic drugs, which act on the parasympathetic nervous system. It describes two main types: direct-acting cholinergics (acetylcholine and related agonists) and indirect-acting cholinergics (cholinesterase inhibitors). The direct-acting drugs include acetylcholine, pilocarpine, and muscarine. The indirect-acting drugs inhibit the enzyme acetylcholinesterase, increasing cholinergic activity. Examples given are physostigmine, neostigmine, pyridostigmine, and organophosphate nerve agents. The document outlines the mechanisms and uses of these drugs in conditions like glaucoma, myasthenia gravis,
Myocardial infarction, also known as a heart attack, occurs when an area of heart muscle is damaged due to inadequate blood flow. It is usually caused by atherosclerosis leading to narrowing or blockage of the coronary arteries. The left anterior descending artery supplies the anterior and septal walls of the heart, while the circumflex artery supplies the posterior and lateral walls. Obstruction of these arteries results in different types of MIs in the respective regions. Risk factors include age over 40, family history, male sex, obesity, diabetes, smoking, and hypertension. Symptoms include chest pain and potential radiation to the arm or shoulder. Diagnostic tests include electrocardiograms, cardiac enzymes, angiography, and imaging scans.
This document discusses heme metabolism and porphyrias. It begins by outlining heme biosynthesis and degradation, then focuses on porphyrias. Porphyrias were once thought to be the basis for vampire legends due to symptoms like sunlight sensitivity and anemia, but this idea has been discarded. The document discusses different types of porphyrias caused by defects in various enzymes in the heme biosynthesis pathway. It also discusses heme degradation and the causes of jaundice related to increased bilirubin levels.
This document provides information on different types of porphyrias, which are disorders of heme biosynthesis. It discusses the main types of acute and non-acute porphyrias, including their mode of inheritance, tissue expression patterns, and abnormalities in urine, feces, and blood porphyrin levels. The types of porphyrias are distinguished based on the specific enzyme deficiency in the heme biosynthesis pathway and the patterns of porphyrin accumulation.
This 3 paragraph summary provides an overview of porphyria:
Porphyria is a rare blood disorder that affects the nervous system and can cause abdominal pain, hallucinations, and liver damage. It occurs from a buildup of dysfunctional molecules called porphyrins in the bloodstream. Historically, some of the earliest known cases date back to the late 18th century. Currently, there is no cure for porphyria but treatments exist to manage symptoms and prevent worsening of the condition. The disease was proposed as a potential explanation for legends about vampires and werewolves due to similarities between porphyria symptoms and folklore descriptions.
This document discusses various types of porphyrias, which are disorders of heme biosynthesis. It describes the pathways of porphyrin synthesis and the enzymes involved at each step. It then classifies the main types of porphyria as either acute or non-acute, and lists examples such as acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, porphyria cutanea tarda, congenital erythropoietic porphyria, ALAD deficiency porphyria, and erythropoietic protoporphyria. It indicates the tissues affected, inheritance, and abnormal metabolites detected in urine, feces, or blood for each type of porphy
This document provides information on hyperlipidemia including the transport and metabolism of lipids, causes of hyperlipidemia, screening guidelines, treatment goals, and treatment options. It describes how chylomicrons transport dietary fats through the lymphatic system to the liver where they are converted to LDL, which transports cholesterol to cells. HDL transports excess cholesterol from cells back to the liver. It lists various genetic and acquired causes of elevated lipids and guidelines for screening and treatment targets based on cardiovascular risk factors. Lifestyle modifications and drug classes used to treat hyperlipidemia are also summarized.
This document describes different types of antihyperlipidemic drugs used to treat various types of hyperlipidemias. It discusses the mechanisms and side effects of niacin, fibrates like gemfibrozil and clofibrate, bile acid sequestrants like cholestyramine, statins which inhibit HMG CoA reductase, and ezetimibe which inhibits cholesterol absorption. The types of hyperlipidemia and appropriate drug therapies are outlined.
This document discusses autosomal disorders of mitochondrial DNA maintenance. It notes that these disorders involve defects in both the nuclear and mitochondrial genomes that can lead to tissue-specific oxidative phosphorylation defects and disease symptoms. Key points include:
1) Mutations in the POLG gene are a major cause of these disorders and can result in a broad spectrum of conditions from mild PEO to Alpers syndrome. Most POLG mutations are autosomal recessive.
2) Mutations in the PEO1 gene are a major cause of autosomal dominant PEO.
3) Mutations in the ANT1 gene are a relatively rare cause of autosomal dominant PEO.
Two case studies are described to illustrate POL
4. historyhistory
Onset ageOnset age
distributiondistribution
CourseCourse
MyalgiaMyalgia
CrampCramp
ContractureContracture
Dark urineDark urine
Myotonia ,Stiffness /warming up phenomenaMyotonia ,Stiffness /warming up phenomena
Aggravating: exercise /diet/temperature/drugAggravating: exercise /diet/temperature/drug
5. examexam
Limb girdleLimb girdle
ScapuloperonealScapuloperoneal
DistalDistal
Ocular or pharyngealOcular or pharyngeal
Neck extensorNeck extensor
Atrophy or hypertrophyAtrophy or hypertrophy
Myotonia or paramyotoniaMyotonia or paramyotonia
6. Ptosis usually without opthalmoplegiaPtosis usually without opthalmoplegia
Myotonic dystrophyMyotonic dystrophy
Congenital myopathyCongenital myopathy
Ptosis with opthalmoplegiaPtosis with opthalmoplegia
Oculopharyngeal muscular dystrophyOculopharyngeal muscular dystrophy
Mitochondrial myopathyMitochondrial myopathy
14. muscular dystrophymuscular dystrophy
are inherited myopathy characterized byare inherited myopathy characterized by
progressive muscles weaknessprogressive muscles weakness
°eneration &subsequent replacement°eneration &subsequent replacement
by fibrous & fatty connective tissueby fibrous & fatty connective tissue
Historically were categorized by their:Historically were categorized by their:
Age onset /distribution of weakness&Age onset /distribution of weakness&
pattern of inheritancepattern of inheritance
The genetic mutation &abnormal geneThe genetic mutation &abnormal gene
product were defined for many of themproduct were defined for many of them
16. Duchenne MDDuchenne MD
Incidence: 1/3500 male birthIncidence: 1/3500 male birth
1/3 new mutation1/3 new mutation
c/p:as early as 2-3y with delayc/p:as early as 2-3y with delay
milestonesmilestones
Progressive limb girdle patternProgressive limb girdle pattern
Fall 5-6y/difficult climb stair 8y,Fall 5-6y/difficult climb stair 8y,
confined to wheelchair 12yconfined to wheelchair 12y
17. Joint constructers 6-10yJoint constructers 6-10y
Calf hypertrophy is earlyCalf hypertrophy is early
Muscles atrophy lateMuscles atrophy late
Progressive kyphscliosis due to ParaspinalProgressive kyphscliosis due to Paraspinal
muscles weaknessmuscles weakness
Reflex: biceps/knee/lost by age 10yReflex: biceps/knee/lost by age 10y
ankle preserved late in diseaseankle preserved late in disease
Respiratory s/s after age 10Respiratory s/s after age 10
18. Cardiac: generally asymptomaticCardiac: generally asymptomatic
CHF, arrhythmia lateCHF, arrhythmia late
90% abnormal ECG :tall rt R90% abnormal ECG :tall rt R
wave,deep left Q wavewave,deep left Q wave
Echo: hypokinesia ,dilatation ofEcho: hypokinesia ,dilatation of
ventricular wallventricular wall
GI: intestinal pseudo obstructionGI: intestinal pseudo obstruction
IQ: one SD below NIQ: one SD below N
19. lablab
A dystrophin gene deletion can be detected by:A dystrophin gene deletion can be detected by:
DNA analyses from leukocytes by PCR in 2/3DNA analyses from leukocytes by PCR in 2/3
patient or DNA musclespatient or DNA muscles
The other 1/3 DX by… muscles biopsy( dystrophinThe other 1/3 DX by… muscles biopsy( dystrophin
def by stain &WB ,typical features of MD)def by stain &WB ,typical features of MD)
CK:20-100 XN ,decline laterCK:20-100 XN ,decline later
EMG:myopathic &fibrillationEMG:myopathic &fibrillation
Note :if DNA study +ve no need for EMGNote :if DNA study +ve no need for EMG
&muscles biopsy&muscles biopsy
20. Beckers MDBeckers MD
Is milder formIs milder form
5/100,0005/100,000
Age :5-15yAge :5-15y
Wheelchair at 30yWheelchair at 30y
Cardiac similar to duchenneCardiac similar to duchenne
Death by age 40Death by age 40
Dx: DNA, muscle biopsy decrease inDx: DNA, muscle biopsy decrease in
dystrophindystrophin
CK:moderatly elevatedCK:moderatly elevated
21. treatmenttreatment
No treatment prevent theNo treatment prevent the
progressionprogression
corticosteroid :controlled trial withcorticosteroid :controlled trial with
predinsone 0,75mg/kg demonstratepredinsone 0,75mg/kg demonstrate
moderate improvement in strengthmoderate improvement in strength
&delay progression to wheel chair&&delay progression to wheel chair&
respiratory compromiserespiratory compromise
23. CK :normal to or only moderateCK :normal to or only moderate
elevatedelevated
The muscle biopsy :myopathicThe muscle biopsy :myopathic
&fewer dystrophic&fewer dystrophic
DNA:mutation gene in Xq28 code forDNA:mutation gene in Xq28 code for
protien emerinprotien emerin
24. Limb girdle dystrophyLimb girdle dystrophy
AR majorityAR majority
Onset: adolescence or lateOnset: adolescence or late
childhood: sever child recessive muscularchildhood: sever child recessive muscular
dystrophydystrophy
25. AR: defect in sacroglycan component ofAR: defect in sacroglycan component of
the DGC( sacroglycanopathythe DGC( sacroglycanopathy((
Alpha sacrglycan adhelin is account forAlpha sacrglycan adhelin is account for
20%20%
Onset:childhood& variableOnset:childhood& variable
No intellectual impairment or cardiacNo intellectual impairment or cardiac
Muscle biopsy :immune stain absent orMuscle biopsy :immune stain absent or
diminished for sacroglycandiminished for sacroglycan
26. AD: onset: second and third decadesAD: onset: second and third decades
Protein defect:caveolin-3Protein defect:caveolin-3
There are multiple subtypesThere are multiple subtypes
AD type 1:1A,1B …AD type 1:1A,1B …
AR type 2:AR type 2:
27. Congenital muscular dystrophyCongenital muscular dystrophy
ARAR
Perinatal onsetPerinatal onset
c/p:hypotonia &proximalc/p:hypotonia &proximal
weakness,arthrogryposisweakness,arthrogryposis
Two typesTwo types
CNS involvement: severCNS involvement: sever mental retardationmental retardation
,visual, seizure ..cerebrocular dysplasia,,visual, seizure ..cerebrocular dysplasia,
progressive death by age 10-12progressive death by age 10-12
No CNS :classic typeNo CNS :classic type MRI (hypomyelination),MRI (hypomyelination),
benign outcome, non progressivebenign outcome, non progressive
Muscle biopsy :dystrophy…Muscle biopsy :dystrophy…
28. FSHFSH
InheritanceInheritance: AD: AD
Variable expression within the familiesVariable expression within the families
AgeAge: childhood or adult life: childhood or adult life
C/PC/P::
weakness early facial then descending to scapula stabilizerweakness early facial then descending to scapula stabilizer
muscles &muscles of the upper limb& distal weaknessmuscles &muscles of the upper limb& distal weakness
..peroneal ,the rate of progression to forearm &pelvic girdle..peroneal ,the rate of progression to forearm &pelvic girdle
Asymmetrical/Asymmetrical/ deltoid preserved / joint contracture aredeltoid preserved / joint contracture are
uncommonuncommon
Popeye handPopeye hand/ winging scapula// winging scapula/ no muscle hypertrophyno muscle hypertrophy
Early onset worse prognosisEarly onset worse prognosis
20% require wheelchair20% require wheelchair
29. Work upWork up
CK:N or mild elevationCK:N or mild elevation
Muscles biopsy: myopathicMuscles biopsy: myopathic
dystrophicdystrophic& occasionally prominent& occasionally prominent
mononuclear infiltratemononuclear infiltrate
Gene: ch 4q35 gene deletionGene: ch 4q35 gene deletion
30. Myotonic dystrophyMyotonic dystrophy
AD,AD, CTG repeatCTG repeat
Affect :Affect :
skeletal,cardiac, smooth muscles, eye,endocrineskeletal,cardiac, smooth muscles, eye,endocrine
&brain&brain
Onset :at any age ,usually at late 2Onset :at any age ,usually at late 2ndnd
decadedecade
Some individual can be symptoms free theirSome individual can be symptoms free their
entire lifeentire life
Sever form :congenital myotonic dystrophySever form :congenital myotonic dystrophy
32. systemicsystemic
Posterior sub scapular cataractPosterior sub scapular cataract
Testicular atrophy& impotenceTesticular atrophy& impotence
Intellectual impairmentIntellectual impairment
Hypersomnia (central & obstructive)Hypersomnia (central & obstructive)
Respiratory failureRespiratory failure
Elevation of serum glu, rarely frank DMElevation of serum glu, rarely frank DM
GI: dysphagea, pseudo obstructionGI: dysphagea, pseudo obstruction
Cardiac conduction defect sudden deathCardiac conduction defect sudden death
Fetal loss in femaleFetal loss in female
33. PROMMPROMM
ADAD
Proximal weakness, no distalProximal weakness, no distal
weaknessweakness
Myotonia &myalgiaMyotonia &myalgia
Less cardiac &other organLess cardiac &other organ
involvement except cataractinvolvement except cataract
34. Work upWork up
CK:N or mild elevationCK:N or mild elevation
EMG: myopathic &EMG: myopathic & myotoniamyotonia
Muscle biopsy: atrophic, non specificMuscle biopsy: atrophic, non specific
Gene :CTG repeat >50 in ch19q13.2Gene :CTG repeat >50 in ch19q13.2
35. tttttt
Myotonia rarely sever to require tt:Myotonia rarely sever to require tt:
phenytoin is the only safe drugphenytoin is the only safe drug
Annual ECG ..pacemaker mayAnnual ECG ..pacemaker may
requiredrequired
Positive pressure ventilation supportPositive pressure ventilation support
High risk in surgery (cardiacHigh risk in surgery (cardiac
&respiratory)&respiratory)
Sedation & opiod use with cautionSedation & opiod use with caution
36. Distal dystrophyDistal dystrophy
TypesTypes
AD:4AD:4thth
&6&6thth
decadedecade
AR:in early adult onset/late secondAR:in early adult onset/late second
or early 3or early 3rdrd
CK :elevated 200xN ARCK :elevated 200xN AR
37. oculopharengealoculopharengeal
ADAD
Onset:5Onset:5thth
&6&6thth
decadedecade
Ptosis &dysphagea later all extra ocularPtosis &dysphagea later all extra ocular
muscles &extremities affected (limb girdle)muscles &extremities affected (limb girdle)
but distal can be significant in somebut distal can be significant in some
variantvariant
Slow progressive ,death from aspirationSlow progressive ,death from aspiration
pneumonia or starvationpneumonia or starvation
Ck:n or mild elevatedCk:n or mild elevated
Muscle biopsy :Muscle biopsy :rim vacuolesrim vacuoles
Genetic GCG repeat in ch14Genetic GCG repeat in ch14
38.
39. Congenital myopathyCongenital myopathy
Are distinguished from dystrophy inAre distinguished from dystrophy in
threethree respect:respect:
Characteristic morphologic alterationCharacteristic morphologic alteration
At birthAt birth
Non progressiveNon progressive
However there are exception to allHowever there are exception to all
these generalizationthese generalization
Inheritance: are variableInheritance: are variable
40. c/p:c/p: hypotonia with subsequent developmental delayhypotonia with subsequent developmental delay
Reduce muscles bulk, slender body build &long narrow faceReduce muscles bulk, slender body build &long narrow face
Skeletal abnormalities: high arched palate ,pectusSkeletal abnormalities: high arched palate ,pectus
exacavitum, kyphscliosis, dislocated hip, pes cavusexacavitum, kyphscliosis, dislocated hip, pes cavus))
Absent or reduced muscle stretch reflexAbsent or reduced muscle stretch reflex
Weakness: limb girdle mostly, butWeakness: limb girdle mostly, but distaldistal weakness existweakness exist
CK &EMG may be normalCK &EMG may be normal
Muscle biopsy: the diagnostic methodMuscle biopsy: the diagnostic method
41. Central core myopathyCentral core myopathy
Characterized by discrete zones ofCharacterized by discrete zones of
myofibrillar disruption in the centermyofibrillar disruption in the center
of muscles fiberof muscles fiber
AD but can be sporadicAD but can be sporadic
Mutation ch 19,similar to malignantMutation ch 19,similar to malignant
hyperthermia patienthyperthermia patient
So anesthesia precaution areSo anesthesia precaution are
necessarynecessary
42. Nemaline myopathyNemaline myopathy
Pathology: thePathology: the presence of rods orpresence of rods or
melamine bodies within muscles fibermelamine bodies within muscles fiber
AD or ARAD or AR
c/p:c/p:
Sever neonatalSever neonatal form which is fatal in theform which is fatal in the
first year of lifefirst year of life
Mild staticMild static
Slowly progressiveSlowly progressive from birth or earlyfrom birth or early
childhoodchildhood
Note :rods can present in HIV relatedNote :rods can present in HIV related
myopathy ,some inflammatorymyopathy ,some inflammatory
43. Centro nuclear (myotubularCentro nuclear (myotubular((
Pathology: large central nuclei in thePathology: large central nuclei in the
muscle fibermuscle fiber
X linked/AD/ARX linked/AD/AR
sever neonatal/static or slowlysever neonatal/static or slowly
progressiveprogressive
c/p: ptosis & opthalmoparesisc/p: ptosis & opthalmoparesis
Genetic defect: mutation inGenetic defect: mutation in
myotubularin gene Xp28myotubularin gene Xp28
46. Metabolic myopathyMetabolic myopathy
Clues to hereditary metabolicClues to hereditary metabolic
myopathymyopathy
Excersize induce weaknessExcersize induce weakness
&myoglobinuria…glycogen &lipid&myoglobinuria…glycogen &lipid
Part of diffuse neurologicalPart of diffuse neurological
syndrome…mitochondrialsyndrome…mitochondrial
47. Glucose/glycogenGlucose/glycogen
Glucose &its storage is essential for theGlucose &its storage is essential for the
short termshort term anaerobic energy (glycogensis)anaerobic energy (glycogensis)
Two clinical presentation:Two clinical presentation:
1-dynamic:type V/V11/V111/1X//XX11-dynamic:type V/V11/V111/1X//XX1
2-static:fix weakness2-static:fix weakness
1/111/1V1/111/1V
Inheritance:AR except forInheritance:AR except for
phosphoglycerate kinasephosphoglycerate kinase
48. Glycogensis with exerciseGlycogensis with exercise intoleranceintolerance
C/P: exercise intolerance in the childhoodC/P: exercise intolerance in the childhood
followed by excertional induced muscle painfollowed by excertional induced muscle pain
&myoglobinurea in sec or 3&myoglobinurea in sec or 3rdrd
decade..decade..
(Second wind phenomena)(Second wind phenomena)
work up:work up:
CK/EMG normal between the attack in early stageCK/EMG normal between the attack in early stage
but after attack( myopathic &fibrillation)but after attack( myopathic &fibrillation)
Forearm exercise testForearm exercise test
Enzyme assayEnzyme assay
Muscle biopsyMuscle biopsy
Genetic for mutationGenetic for mutation
49. What is 0ther causes ofWhat is 0ther causes of
myoglobinureamyoglobinurea??
50. Glycogensis with fixed weaknessGlycogensis with fixed weakness
Acid maltase deficiency:Acid maltase deficiency:
Enzyme convert glycogen to glucoseEnzyme convert glycogen to glucose
Three clinical variant:Three clinical variant:
Infantile: pompes: progressiveInfantile: pompes: progressive
weakness ,enlargement of heart, tongueweakness ,enlargement of heart, tongue
&liver&liver death by age 2death by age 2
Juvenile type: proximal weakness, mayJuvenile type: proximal weakness, may
calf hypertrophy death by age 20 fromcalf hypertrophy death by age 20 from
respiratory failurerespiratory failure
Adult type:2&7Adult type:2&7thth
progressive limb girdle orprogressive limb girdle or
scapuloperoneal .no liver ,no heartscapuloperoneal .no liver ,no heart
involvementinvolvement
51. Work upWork up
CK :moderately increasedCK :moderately increased
EMG: myopathic changes &EMG: myopathic changes &myotonicmyotonic
discharge in paraspinusdischarge in paraspinus
Enzyme assay:Enzyme assay:
Muscle biopsy: a vacuolar myopathyMuscle biopsy: a vacuolar myopathy
with high glycogen contentwith high glycogen content
Genetic: mutation in ch 17Genetic: mutation in ch 17
52. Fatty acid metabolismFatty acid metabolism
Lipids are essential for aerobicLipids are essential for aerobic
metabolismmetabolism
Dynamic & staticDynamic & static
CPT:carnitine palmitoyl transeferaseCPT:carnitine palmitoyl transeferase
deficiencydeficiency
Carnitine deficiencyCarnitine deficiency
53. CPTCPT
Type 1:infancy &child hood with hepaticType 1:infancy &child hood with hepatic
dysfunctiondysfunction
Type 2:exertional myalgia &myoglobinurea,Type 2:exertional myalgia &myoglobinurea,
it is the most frequently definableit is the most frequently definable
metabolic defect presenting with myoglobinureametabolic defect presenting with myoglobinurea
AR ,gene 1p32AR ,gene 1p32
The attacks occur after prolonged exercise,The attacks occur after prolonged exercise,
fasting, febrile illnessfasting, febrile illness
Unlike mecardle disease the patient can tolerateUnlike mecardle disease the patient can tolerate
brief exercise ,no second wind phenomenabrief exercise ,no second wind phenomena
Muscle strength are normal at restMuscle strength are normal at rest
54. lablab
CK:n at restCK:n at rest
Forearm exercise test :NForearm exercise test :N
EMG: n at rest ,&myopathic during theEMG: n at rest ,&myopathic during the
attackattack
Muscle biopsy: usually N ,except ofMuscle biopsy: usually N ,except of
myopathic changes after rhabdomylsismyopathic changes after rhabdomylsis
Enzyme assayEnzyme assay
ttt &meal frequency: increase CHO intakettt &meal frequency: increase CHO intake
&education about fasting &exercise&education about fasting &exercise
56. channelopathychannelopathy
Non dystrophic myotoniaNon dystrophic myotonia
Periodic paralysisPeriodic paralysis
It due to mutation in differentIt due to mutation in different
channels gene leading to :channels gene leading to :
Hyper excitability :myotoniaHyper excitability :myotonia
In excitability: paralysisIn excitability: paralysis
57. Chloride channelopathyChloride channelopathy
Mutation in CLMutation in CL
channel..hyperexcitability afterchannel..hyperexcitability after
depolarizationdepolarization
Myotonia congenita:Myotonia congenita:
AD..thomsen /AR:beckerAD..thomsen /AR:becker
C/P:C/P:
muscle hypertrophy,muscle hypertrophy,
myotonia/becker type has fluctuatingmyotonia/becker type has fluctuating
limb girdle weaknesslimb girdle weakness
61. Paramytonia congenitaParamytonia congenita
ADAD
Onset :1Onset :1stst
decadedecade
Paradoxical myotonia (Aggravated byParadoxical myotonia (Aggravated by
warm as well cold)warm as well cold)
Face ,neck,forearmFace ,neck,forearm
After several attempt of eye closure theAfter several attempt of eye closure the
patient can not open the eyepatient can not open the eye
ttt: Na channels blocker mexiletinettt: Na channels blocker mexiletine
62. Hyperkalamic periodic paralysisHyperkalamic periodic paralysis
K sensitive periodic paralysisK sensitive periodic paralysis
Onset :1Onset :1stst
decadedecade
Attack last:1-2 hAttack last:1-2 h
During attack: areflexic with no ocular orDuring attack: areflexic with no ocular or
respiratory muscles weaknessrespiratory muscles weakness
Strength is n between the attack, but someStrength is n between the attack, but some
patient has interictal limb girdle weaknesspatient has interictal limb girdle weakness
Some families have myotonia ¶myotoniaSome families have myotonia ¶myotonia
Aggravated: fasting/cold, shortly after exercise, KAggravated: fasting/cold, shortly after exercise, K
load, early AMload, early AM
63. Episodes are rarely serous enough toEpisodes are rarely serous enough to
require acute tttrequire acute ttt
ttt:ttt:
oral CHOoral CHO
Prevention: thiazide,B agonist, lowPrevention: thiazide,B agonist, low
K,high CHOK,high CHO
Avoid fasting, strenuous exercise/Avoid fasting, strenuous exercise/
64. myotoniamyotonia
No weaknessNo weakness
Aggravated by K diet/ excretionAggravated by K diet/ excretion
Can response to acetazolamideCan response to acetazolamide
65. hypokalemiahypokalemia
AD:AD:
It is the most frequent form of periodicIt is the most frequent form of periodic
paralysisparalysis
Common in maleCommon in male
Age: adolescenceAge: adolescence
The attacks 3-24h/vague prodorme ofThe attacks 3-24h/vague prodorme of
stiffness &heaviness& rarely ocular,stiffness &heaviness& rarely ocular,
bulbar, respiratory involvedbulbar, respiratory involved
Early Myotonia of eyelid & late interictalEarly Myotonia of eyelid & late interictal
proximal weaknessproximal weakness
66. AggravatedAggravated: CHO meal, cold,hrs post: CHO meal, cold,hrs post
exercise, sleepexercise, sleep
Work up:K level q 30min /TFT/Work up:K level q 30min /TFT/
R/O 2R/O 2ndnd
causes of hypokalemiacauses of hypokalemia
Tttt:Tttt:
Acute:Acute: oral K Q30min ,if symptoms severoral K Q30min ,if symptoms sever
iv Kiv K
Prevention:Prevention:
Low CHO, low sodium dietLow CHO, low sodium diet
,spirnolactone, trimetrine,spirnolactone, trimetrine