This document provides an overview of neuromuscular diseases, including classifications, signs and symptoms, and details on specific conditions. It covers muscular dystrophies like Duchenne, congenital myopathies such as nemaline and myotubular myopathy, anterior horn cell disorders including spinal muscular atrophy (SMA), and metabolic myopathies. For each, it discusses genetics, clinical presentation, management considerations, and includes illustrative images. The goal is to help clinicians identify impending respiratory failure and monitor patients using tests like pulmonary function tests.
This document discusses spinal muscular atrophy (SMA), including its causes, types, signs and symptoms, diagnosis, and treatment. SMA is caused by a mutation in the SMN1 gene that results in a lack of survival motor neuron protein and the degeneration of alpha motor neurons in the spinal cord. It is classified into five types based on age of onset and severity. There is currently no cure for SMA, but treatment focuses on managing symptoms through rehabilitation, assistive devices, ventilation support, and gene therapy research shows promise for slowing disease progression.
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.
In this slideshow, we covered most of neuromuscular disorders which might face you in medicine in general and in pediatrics in particular.
We hope if you find this slideshow helpful for your seeking of this subject.
Cheers,
The document discusses cerebellar ataxia, a disorder caused by damage to the cerebellum that controls coordination. It causes loss of coordination, balance problems, and slurred speech. The cerebellum coordinates muscle movement and is located in the hindbrain. Causes include viruses, alcohol, tumors, and toxins. Symptoms are diagnosed through neurological exams, imaging scans, and lab tests. Treatment focuses on physical therapy, assistive devices, and treating any underlying causes to ease symptoms and improve quality of life. Prevention involves vaccinations to reduce risk of viral infections that can lead to cerebellar ataxia.
Amyotrophic lateral sclerosis (ALS), AKA "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.
This presentation contains detailed knowledge about Down's Syndrome its types, clinical presentation, diagnosis, medical and physio therapeutic management of the condition.
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
Cerebral Palsy: PT assessment and ManagementSurbala devi
Cerebral palsy (CP) is a group of disorders caused by damage to the developing brain before, during or after birth. It affects movement and posture, and can cause physical disability. The main types are spastic, athetoid, ataxic and hypotonic CP. Symptoms vary depending on the type and severity. CP is diagnosed based on signs of impaired motor development and abnormal muscle tone or movement. There is no cure for CP, but treatment aims to improve ability and quality of life through therapies and medications.
Motor neuron disease - Etiology, Pathogenesis, Clinical Features, Classificat...Chetan Ganteppanavar
This document discusses motor neuron diseases, including amyotrophic lateral sclerosis (ALS). It provides details on the classification, symptoms, signs, diagnosis, prognosis, and management of ALS and related conditions. Key points include that ALS is characterized by the degeneration of both upper and lower motor neurons, leading to muscle weakness, atrophy, and fasciculations. Diagnosis involves finding signs of both upper and lower motor neuron involvement. Prognosis is typically worse if onset is bulbar or simultaneous in multiple limbs. Treatment focuses on managing symptoms while no treatments have been proven to slow disease progression.
This document discusses spinal muscular atrophy (SMA), including its causes, types, signs and symptoms, diagnosis, and treatment. SMA is caused by a mutation in the SMN1 gene that results in a lack of survival motor neuron protein and the degeneration of alpha motor neurons in the spinal cord. It is classified into five types based on age of onset and severity. There is currently no cure for SMA, but treatment focuses on managing symptoms through rehabilitation, assistive devices, ventilation support, and gene therapy research shows promise for slowing disease progression.
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.
In this slideshow, we covered most of neuromuscular disorders which might face you in medicine in general and in pediatrics in particular.
We hope if you find this slideshow helpful for your seeking of this subject.
Cheers,
The document discusses cerebellar ataxia, a disorder caused by damage to the cerebellum that controls coordination. It causes loss of coordination, balance problems, and slurred speech. The cerebellum coordinates muscle movement and is located in the hindbrain. Causes include viruses, alcohol, tumors, and toxins. Symptoms are diagnosed through neurological exams, imaging scans, and lab tests. Treatment focuses on physical therapy, assistive devices, and treating any underlying causes to ease symptoms and improve quality of life. Prevention involves vaccinations to reduce risk of viral infections that can lead to cerebellar ataxia.
Amyotrophic lateral sclerosis (ALS), AKA "Lou Gehrig's Disease," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.
This presentation contains detailed knowledge about Down's Syndrome its types, clinical presentation, diagnosis, medical and physio therapeutic management of the condition.
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
Cerebral Palsy: PT assessment and ManagementSurbala devi
Cerebral palsy (CP) is a group of disorders caused by damage to the developing brain before, during or after birth. It affects movement and posture, and can cause physical disability. The main types are spastic, athetoid, ataxic and hypotonic CP. Symptoms vary depending on the type and severity. CP is diagnosed based on signs of impaired motor development and abnormal muscle tone or movement. There is no cure for CP, but treatment aims to improve ability and quality of life through therapies and medications.
Motor neuron disease - Etiology, Pathogenesis, Clinical Features, Classificat...Chetan Ganteppanavar
This document discusses motor neuron diseases, including amyotrophic lateral sclerosis (ALS). It provides details on the classification, symptoms, signs, diagnosis, prognosis, and management of ALS and related conditions. Key points include that ALS is characterized by the degeneration of both upper and lower motor neurons, leading to muscle weakness, atrophy, and fasciculations. Diagnosis involves finding signs of both upper and lower motor neuron involvement. Prognosis is typically worse if onset is bulbar or simultaneous in multiple limbs. Treatment focuses on managing symptoms while no treatments have been proven to slow disease progression.
This document provides an overview of congenital myopathies and congenital muscular dystrophies. It defines congenital myopathies as muscle disorders presenting in infancy with generalized muscle weakness and hypotonia. Several types of congenital myopathies are described based on their histopathological features, including nemaline myopathy, central core disease, centronuclear myopathy, and congenital fiber type disproportion. The clinical features, investigations, pathology, genetics, and management are discussed for each type. Congenital muscular dystrophies are also briefly introduced.
This document discusses athetosis and dystonia. It defines athetosis as irregular, slow writhing movements, often of the extremities and fingers. Dystonia is defined as an abnormal sustained muscle contraction causing twisting movements and abnormal postures. The document describes the clinical presentations and patterns of movement seen in athetosis. It discusses the potential pathophysiology of athetosis involving lesions in the frontal lobes, parietal lobes, and putamen. Causes of athetosis in children and adults are provided. Dystonia is similarly defined and classified. Potential pathology, types, hereditary forms, and secondary causes of dystonia are outlined in detail.
This document provides an overview of cerebral palsy (CP), including its history, causes, risk factors, types, symptoms, diagnosis, treatment, and the potential role of kinesio taping in rehabilitation. CP is a non-progressive brain injury that causes movement disorders. It can be caused by problems before, during, or after birth. Treatment is non-curative and focuses on rehabilitation, physical therapy, medications, and surgery to improve function and prevent complications. Kinesio taping is a rehabilitation technique that may help improve motor skills in children with CP, but more research is needed on its effectiveness.
Syringomyelia is a condition where a cyst, called a syrinx, develops in the spinal cord. It most commonly affects the lower cervical spine. It is often associated with abnormalities of the skull or spinal column. The majority of cases are linked to Chiari malformation type 1, where the cerebellar tonsils are displaced into the spinal canal. Symptoms vary depending on the location of the syrinx but can include pain, loss of sensation, muscle weakness or atrophy, and autonomic dysfunction. Diagnosis is made using imaging like MRI. Treatment involves surgery to decompress pressure on the spinal cord like laminectomy with the goal of resolving the syrinx.
Muscular dystrophy is a genetic disorder characterized by progressive skeletal muscle weakness. The most common type is Duchenne muscular dystrophy, which is caused by a lack of the muscle protein dystrophin. Clinical features include muscle wasting, impaired balance and mobility, scoliosis, respiratory difficulties, and in late stages, weakness of upper limb muscles. Physiotherapy management focuses on maintaining strength and range of motion, preventing deformities, improving respiratory function, and assisting with activities of daily living through the different stages of the disease.
This document defines and describes different types of muscle tone abnormalities. Muscle tone is the resistance offered by muscles to passive stretch. Hypertonia includes spasticity and rigidity, where there is increased resistance to stretch. Spasticity is velocity-dependent and involves exaggerated reflexes. Rigidity is resistance throughout range of motion. Hypotonia involves decreased or absent resistance and flaccidity. Specific types of hypertonia and hypotonia are further described based on their neurological causes and clinical presentations.
Motor neuron diseases are a group of rare neurodegenerative disorders that progressively cause nerves in the brain and spinal cord to lose function, affecting voluntary muscle movement. The most common type in adults is amyotrophic lateral sclerosis (ALS), which affects both upper and lower motor neurons. There is no cure for motor neuron diseases, so treatment focuses on managing symptoms and maximizing quality of life through supportive care, rehabilitation, and FDA-approved drugs that may slow progression. Prognosis depends on the specific type of motor neuron disease and age of onset, with some forms being fatal and others non-fatal but still impacting quality of life over time.
This ppt describes various movement disorders found commonly in elderly persons. It also describes hyper and hypokinetic disorder categorization with cause and pathophysiology of movement disorders.
Neuromuscular disorders in children (2)shivani1305
The document discusses neuromuscular diseases. It defines the motor unit and its components. Some key neuromuscular diseases discussed include muscular dystrophies, congenital and metabolic myopathies, anterior horn cell disorders, and neuromuscular junction diseases. Common symptoms of neuromuscular diseases are then outlined. Diagnostic tests and treatment approaches are also summarized for several specific conditions like spinal muscular atrophy, Guillain-Barré syndrome, and myasthenia gravis.
Muscular dystrophy is a heterogeneous group of inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The document discusses several types of muscular dystrophy including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, fascioscapulohumeral muscular dystrophy, distal muscular dystrophy, congenital muscular dystrophy, and myotonic muscular dystrophy. For each type, the document outlines causes, epidemiology, clinical manifestations, diagnosis, natural history, and treatment.
This document provides information on spinal muscular atrophy (SMA), including its genetics, epidemiology, classification, clinical features, diagnosis, management, and clinical trials of potential treatments. SMA is caused by a loss of motor neurons in the spinal cord due to a defect in the SMN1 gene and results in progressive muscle weakness. It is classified into five types based on age of onset and severity. Current management involves a multidisciplinary approach including nutritional and respiratory support as well as pharmacological treatments such as nusinersen, onasemnogene abeparvovec, and risdiplam which are being investigated in clinical trials as potential disease-modifying therapies.
Hereditary motor and sensory neuropathyHazel Panabe
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease, is the most common inherited neuromuscular disorder. It is characterized by slowly progressive distal weakness and muscle atrophy in the legs and later in the hands. There are two major types - one with slow nerve conduction velocities associated with demyelinating neuropathy, and one with relatively normal nerve conduction velocities associated with axonal degeneration. Most families demonstrate autosomal dominant inheritance with a 50% chance of offspring being affected if a parent has the disease.
This document discusses Duchenne muscular dystrophy (DMD), a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by mutations in the dystrophin gene leading to absence of the dystrophin protein. The document outlines the clinical presentation and stages of DMD from early childhood to late stages requiring wheelchair use. It also discusses diagnostic testing, management including cardiac and nutritional support, genetic counseling and potential future treatments like exon skipping drugs.
This document provides an overview of scoliosis, including:
- Definitions and classifications of scoliosis types like idiopathic, congenital, neuromuscular, etc.
- Descriptions of curve patterns, measurements, and radiographic assessments.
- Clinical features and evaluations like trunk examination, scoliometer use, and Adams forward bend test.
- Etiology, progression risks, and long-term effects of different scoliosis types.
- Common curve classifications including King's type and Cobb angle measurement method.
It serves as a reference for the clinical presentation, evaluation, and management considerations for different scoliosis conditions.
The document discusses various types of abnormal gaits seen in different medical conditions. It begins by defining the normal gait cycle and its phases. It then describes common causes of abnormal gaits including pain, joint/muscle limitations, weakness, and neurological involvement. Specific gaits are then outlined, including hemiplegic gait seen in stroke, scissor gait in cerebral palsy, myopathic gait in muscular diseases, steppage gait in foot drop conditions, Parkinsonian gait, and sensory gait related to proprioceptive loss.
NDT, BOBATH TECHNIQUE, BASIC IDEA OF BOBATH, CONCEPT OF BOBATH, NEUROPHYSIOLOGY OF NDT, ICF MODEL, PRINCIPLES OF TREATMENT OF NDT IN STROKE AND CP, AUTOMATIC AND EQUILIBRIUM REACTIONS, KEY POINTS OF CONTROL, FACILITATION, INHIBITION AND HANDLING IN NDT
The document provides an overview of primitive reflexes in infants, including the reflex arc and classification. It describes several important reflexes such as the Moro reflex, rooting reflex, sucking reflex, palmar grasp reflex, plantar grasp reflex, and Babinski reflex. For each reflex, it outlines the testing position and stimulus, expected response, onset and typical integration period. It discusses potential issues associated with retained or abnormal reflexes, including challenges with motor skills, sensory processing, learning, and behavior. Suggestions are provided for integrating reflexes through various proprioceptive and tactile activities.
This document provides information on ataxia, including its definition as a neurological disorder involving lack of voluntary muscle coordination. It describes the main types of ataxia and several specific hereditary forms. Key points include Friedreich's ataxia being the most common hereditary form, typically beginning in childhood. Imaging tests and lab work can help evaluate for various causes, while genetic testing can confirm hereditary types. Overall the document outlines the classification, causes, clinical features and investigative approach for ataxia.
Transverse myelitis is a rare neurological condition where the spinal cord becomes inflamed across its width. It is often caused by an autoimmune response following a viral infection. Symptoms depend on the level of spinal cord involvement and may include sensory changes, motor weakness, and sphincter disturbances. Diagnosis involves ruling out other causes and showing signs of spinal cord inflammation. The goals of physiotherapy are to improve strength, mobility, and independence through exercises and management of issues like spasticity and skin care.
The document discusses normal and abnormal human gait. It defines gait as locomotion produced by coordinated movements of the body segments. The phases and components of the gait cycle are described in detail, including stance, swing, initial contact, loading response, mid-stance, terminal stance, pre-swing, initial swing, mid-swing and terminal swing. Temporal and distance variables that characterize gait are also outlined, such as stance time, single limb support time, double support time, stride length and step length. Factors that can influence gait variables are age, gender, height, joint mobility and muscle strength.
This document discusses neuromuscular diseases and focuses on respiratory failure in patients with these conditions. It classifies neuromuscular diseases, describes clinical signs of impending respiratory failure, and lists diagnostic tests used to monitor patients. It emphasizes the use of non-invasive ventilation and other interventions to treat respiratory failure and discusses specific conditions like Duchenne muscular dystrophy, myopathies, and motor neuron diseases.
1) The document discusses various pathologies that can affect the clivus region, including congenital malformations, acquired conditions, and primary and secondary neoplasms.
2) Examples of discussed pathologies include proatlas segmentation failure, neuroenteric cysts, basilar invagination, fibrous dysplasia, chordoma, plasmacytoma, and meningioma.
3) The pathologies are described in terms of their etiology, clinical presentation, diagnostic evaluation, and treatment options.
This document provides an overview of congenital myopathies and congenital muscular dystrophies. It defines congenital myopathies as muscle disorders presenting in infancy with generalized muscle weakness and hypotonia. Several types of congenital myopathies are described based on their histopathological features, including nemaline myopathy, central core disease, centronuclear myopathy, and congenital fiber type disproportion. The clinical features, investigations, pathology, genetics, and management are discussed for each type. Congenital muscular dystrophies are also briefly introduced.
This document discusses athetosis and dystonia. It defines athetosis as irregular, slow writhing movements, often of the extremities and fingers. Dystonia is defined as an abnormal sustained muscle contraction causing twisting movements and abnormal postures. The document describes the clinical presentations and patterns of movement seen in athetosis. It discusses the potential pathophysiology of athetosis involving lesions in the frontal lobes, parietal lobes, and putamen. Causes of athetosis in children and adults are provided. Dystonia is similarly defined and classified. Potential pathology, types, hereditary forms, and secondary causes of dystonia are outlined in detail.
This document provides an overview of cerebral palsy (CP), including its history, causes, risk factors, types, symptoms, diagnosis, treatment, and the potential role of kinesio taping in rehabilitation. CP is a non-progressive brain injury that causes movement disorders. It can be caused by problems before, during, or after birth. Treatment is non-curative and focuses on rehabilitation, physical therapy, medications, and surgery to improve function and prevent complications. Kinesio taping is a rehabilitation technique that may help improve motor skills in children with CP, but more research is needed on its effectiveness.
Syringomyelia is a condition where a cyst, called a syrinx, develops in the spinal cord. It most commonly affects the lower cervical spine. It is often associated with abnormalities of the skull or spinal column. The majority of cases are linked to Chiari malformation type 1, where the cerebellar tonsils are displaced into the spinal canal. Symptoms vary depending on the location of the syrinx but can include pain, loss of sensation, muscle weakness or atrophy, and autonomic dysfunction. Diagnosis is made using imaging like MRI. Treatment involves surgery to decompress pressure on the spinal cord like laminectomy with the goal of resolving the syrinx.
Muscular dystrophy is a genetic disorder characterized by progressive skeletal muscle weakness. The most common type is Duchenne muscular dystrophy, which is caused by a lack of the muscle protein dystrophin. Clinical features include muscle wasting, impaired balance and mobility, scoliosis, respiratory difficulties, and in late stages, weakness of upper limb muscles. Physiotherapy management focuses on maintaining strength and range of motion, preventing deformities, improving respiratory function, and assisting with activities of daily living through the different stages of the disease.
This document defines and describes different types of muscle tone abnormalities. Muscle tone is the resistance offered by muscles to passive stretch. Hypertonia includes spasticity and rigidity, where there is increased resistance to stretch. Spasticity is velocity-dependent and involves exaggerated reflexes. Rigidity is resistance throughout range of motion. Hypotonia involves decreased or absent resistance and flaccidity. Specific types of hypertonia and hypotonia are further described based on their neurological causes and clinical presentations.
Motor neuron diseases are a group of rare neurodegenerative disorders that progressively cause nerves in the brain and spinal cord to lose function, affecting voluntary muscle movement. The most common type in adults is amyotrophic lateral sclerosis (ALS), which affects both upper and lower motor neurons. There is no cure for motor neuron diseases, so treatment focuses on managing symptoms and maximizing quality of life through supportive care, rehabilitation, and FDA-approved drugs that may slow progression. Prognosis depends on the specific type of motor neuron disease and age of onset, with some forms being fatal and others non-fatal but still impacting quality of life over time.
This ppt describes various movement disorders found commonly in elderly persons. It also describes hyper and hypokinetic disorder categorization with cause and pathophysiology of movement disorders.
Neuromuscular disorders in children (2)shivani1305
The document discusses neuromuscular diseases. It defines the motor unit and its components. Some key neuromuscular diseases discussed include muscular dystrophies, congenital and metabolic myopathies, anterior horn cell disorders, and neuromuscular junction diseases. Common symptoms of neuromuscular diseases are then outlined. Diagnostic tests and treatment approaches are also summarized for several specific conditions like spinal muscular atrophy, Guillain-Barré syndrome, and myasthenia gravis.
Muscular dystrophy is a heterogeneous group of inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The document discusses several types of muscular dystrophy including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy, Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy, fascioscapulohumeral muscular dystrophy, distal muscular dystrophy, congenital muscular dystrophy, and myotonic muscular dystrophy. For each type, the document outlines causes, epidemiology, clinical manifestations, diagnosis, natural history, and treatment.
This document provides information on spinal muscular atrophy (SMA), including its genetics, epidemiology, classification, clinical features, diagnosis, management, and clinical trials of potential treatments. SMA is caused by a loss of motor neurons in the spinal cord due to a defect in the SMN1 gene and results in progressive muscle weakness. It is classified into five types based on age of onset and severity. Current management involves a multidisciplinary approach including nutritional and respiratory support as well as pharmacological treatments such as nusinersen, onasemnogene abeparvovec, and risdiplam which are being investigated in clinical trials as potential disease-modifying therapies.
Hereditary motor and sensory neuropathyHazel Panabe
Hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease, is the most common inherited neuromuscular disorder. It is characterized by slowly progressive distal weakness and muscle atrophy in the legs and later in the hands. There are two major types - one with slow nerve conduction velocities associated with demyelinating neuropathy, and one with relatively normal nerve conduction velocities associated with axonal degeneration. Most families demonstrate autosomal dominant inheritance with a 50% chance of offspring being affected if a parent has the disease.
This document discusses Duchenne muscular dystrophy (DMD), a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by mutations in the dystrophin gene leading to absence of the dystrophin protein. The document outlines the clinical presentation and stages of DMD from early childhood to late stages requiring wheelchair use. It also discusses diagnostic testing, management including cardiac and nutritional support, genetic counseling and potential future treatments like exon skipping drugs.
This document provides an overview of scoliosis, including:
- Definitions and classifications of scoliosis types like idiopathic, congenital, neuromuscular, etc.
- Descriptions of curve patterns, measurements, and radiographic assessments.
- Clinical features and evaluations like trunk examination, scoliometer use, and Adams forward bend test.
- Etiology, progression risks, and long-term effects of different scoliosis types.
- Common curve classifications including King's type and Cobb angle measurement method.
It serves as a reference for the clinical presentation, evaluation, and management considerations for different scoliosis conditions.
The document discusses various types of abnormal gaits seen in different medical conditions. It begins by defining the normal gait cycle and its phases. It then describes common causes of abnormal gaits including pain, joint/muscle limitations, weakness, and neurological involvement. Specific gaits are then outlined, including hemiplegic gait seen in stroke, scissor gait in cerebral palsy, myopathic gait in muscular diseases, steppage gait in foot drop conditions, Parkinsonian gait, and sensory gait related to proprioceptive loss.
NDT, BOBATH TECHNIQUE, BASIC IDEA OF BOBATH, CONCEPT OF BOBATH, NEUROPHYSIOLOGY OF NDT, ICF MODEL, PRINCIPLES OF TREATMENT OF NDT IN STROKE AND CP, AUTOMATIC AND EQUILIBRIUM REACTIONS, KEY POINTS OF CONTROL, FACILITATION, INHIBITION AND HANDLING IN NDT
The document provides an overview of primitive reflexes in infants, including the reflex arc and classification. It describes several important reflexes such as the Moro reflex, rooting reflex, sucking reflex, palmar grasp reflex, plantar grasp reflex, and Babinski reflex. For each reflex, it outlines the testing position and stimulus, expected response, onset and typical integration period. It discusses potential issues associated with retained or abnormal reflexes, including challenges with motor skills, sensory processing, learning, and behavior. Suggestions are provided for integrating reflexes through various proprioceptive and tactile activities.
This document provides information on ataxia, including its definition as a neurological disorder involving lack of voluntary muscle coordination. It describes the main types of ataxia and several specific hereditary forms. Key points include Friedreich's ataxia being the most common hereditary form, typically beginning in childhood. Imaging tests and lab work can help evaluate for various causes, while genetic testing can confirm hereditary types. Overall the document outlines the classification, causes, clinical features and investigative approach for ataxia.
Transverse myelitis is a rare neurological condition where the spinal cord becomes inflamed across its width. It is often caused by an autoimmune response following a viral infection. Symptoms depend on the level of spinal cord involvement and may include sensory changes, motor weakness, and sphincter disturbances. Diagnosis involves ruling out other causes and showing signs of spinal cord inflammation. The goals of physiotherapy are to improve strength, mobility, and independence through exercises and management of issues like spasticity and skin care.
The document discusses normal and abnormal human gait. It defines gait as locomotion produced by coordinated movements of the body segments. The phases and components of the gait cycle are described in detail, including stance, swing, initial contact, loading response, mid-stance, terminal stance, pre-swing, initial swing, mid-swing and terminal swing. Temporal and distance variables that characterize gait are also outlined, such as stance time, single limb support time, double support time, stride length and step length. Factors that can influence gait variables are age, gender, height, joint mobility and muscle strength.
This document discusses neuromuscular diseases and focuses on respiratory failure in patients with these conditions. It classifies neuromuscular diseases, describes clinical signs of impending respiratory failure, and lists diagnostic tests used to monitor patients. It emphasizes the use of non-invasive ventilation and other interventions to treat respiratory failure and discusses specific conditions like Duchenne muscular dystrophy, myopathies, and motor neuron diseases.
1) The document discusses various pathologies that can affect the clivus region, including congenital malformations, acquired conditions, and primary and secondary neoplasms.
2) Examples of discussed pathologies include proatlas segmentation failure, neuroenteric cysts, basilar invagination, fibrous dysplasia, chordoma, plasmacytoma, and meningioma.
3) The pathologies are described in terms of their etiology, clinical presentation, diagnostic evaluation, and treatment options.
Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle weakness. It is caused by mutations in the gene encoding dystrophin, and mainly affects boys. Clinical features include difficulty walking, calf pseudohypertrophy, loss of ambulation by age 12, wheelchair dependence, scoliosis, and death often by age 18 from respiratory or cardiac failure. Diagnosis involves elevated creatine kinase levels, muscle biopsy showing dystrophin deficiency, and genetic testing. There is no cure, but management focuses on maintaining mobility and function.
Soft tissue sarcomas are a heterogeneous group of rare tumors that can arise throughout the body. They account for less than 1% of adult cancers and 7% of childhood cancers. The most common sites are the extremities, retroperitoneum, trunk, and abdomen. While 5-year survival is 50-60%, metastasis typically occurs within 2-3 years and is the leading cause of death. Risk factors include radiation exposure, certain chemicals, and genetic conditions. Evaluation involves assessing symptoms, differentiating benign from malignant lesions, and biopsy for definitive diagnosis.
Meningomyelocoele is the most severe type of spina bifida where there is a cystic swelling over the spinal defect containing meninges, nerve roots, and spinal cord outside the vertebral canal. It occurs due to failure of closure of the neural tube during development. Clinical features include lower limb paralysis, bladder and bowel dysfunction, hydrocephalus, and Arnold-Chiari malformation in 95% of cases. Treatment involves closure of the defect soon after birth along with lifelong multidisciplinary care. One study found that children with meningomyelocoele who could walk, even with aids, performed better cognitively than those who used wheelchairs, suggesting locomotion may positively impact development.
Acute Myeloid Leukemia (AML) is a clonal proliferation of arrested myeloid precursor cells with reduced differentiation capacity. It is differentiated from ALL based on morphology, cytogenetics, and cell surface markers. Risk factors include genetic syndromes, tobacco/chemical exposure, and other myeloid disorders. Symptoms include infection from neutropenia, bleeding from thrombocytopenia, and anemia. Treatment involves induction chemotherapy like 7+3 to achieve remission, followed by consolidation therapy such as high-dose cytarabine and then maintenance chemotherapy. Transplantation is used for poor prognosis or relapsed cases.
The document discusses myopathies, which are neuromuscular disorders characterized by muscle weakness due to dysfunction of muscle fibers. It defines myopathy and provides details on epidemiology, muscle anatomy and physiology, motor units, muscle fiber types, pathology, classification into inherited and acquired forms, examples of specific myopathies like Duchenne muscular dystrophy, Becker muscular dystrophy, limb girdle muscular dystrophy, and facioscapulohumeral muscular dystrophy. It also discusses presentation, signs and symptoms, and diagnostic approach.
this presentation briefly discus about muscle and its related disorder. some myopathies which are common are cover here in an approach to provide basis of the same disease and treatment. this ppt is basically from chapter 32 zakazewski.
This presentation is fetures the basic introduction to Genome mosaicism in humans and nature, with some examples of its harmful effects on humans, with
The document provides an overview of the third week of the Clinical Pathology Conference covering neurology topics including head injury and stroke. It outlines the learning objectives which are to demonstrate the ability to examine patients with neurological issues, describe the pathophysiology of cerebrovascular accidents and hypertension, and understand the management of patients with impaired consciousness. The goals are to educate students on the clinical, pathological, and population aspects of conditions like head trauma, brain injury, and stroke.
This document discusses poorly differentiated neoplasms and provides details about medulloblastoma and meningioma. It notes that medulloblastoma is the most common poorly differentiated brain tumor in children, occurring in the cerebellum. Meningiomas predominantly arise from meningeal cells and can be benign or atypical/anaplastic. The document also covers prion diseases like Creutzfeldt-Jakob disease, which causes rapid dementia and is characterized by spongiform changes in the brain due to misfolded prion proteins.
This child presents with drooping eyelids and squint that worsens in the evenings.
- Myasthenia gravis.
- Ask about weakness of other muscles, response to rest.
- Tensilon test and acetylcholine receptor antibody levels would help confirm the diagnosis.
This powerpoint i talked about the types classification of the Muscular disorder , followed by Duchenne Muscular dystrophy Clinical features, pathophysiology, Diagnosis , followed by the latest treatment available for its treatment.
This document discusses various topics in human genetics including:
1. It defines human genetics as the scientific study of human variation and heredity, and medical genetics as the study of the hereditary nature of human disease.
2. Genetic diseases can be caused by inherited mutations, chromosomal abnormalities, or mutations in somatic cells (cancer). Inherited diseases can be due to nuclear or mitochondrial genetic mutations.
3. Examples of inherited genetic disorders and their inheritance patterns are discussed, including autosomal dominant disorders like achondroplasia and autosomal recessive disorders like thalassemia.
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.shhhoaib
Fragile X syndrome is a genetic condition and the most common inherited cause of intellectual disability. It is caused by a mutation on the X chromosome that results in reduced production of the FMRP protein, important for neural development. Signs may include prominent ears, long face, joint flexibility, and cognitive impairment. Diagnosis is made through genetic testing. While there is no cure, treatment aims to manage symptoms through education, therapy and medication. Ongoing research studies new drugs that target underlying mechanisms.
This document discusses sleep, drowsy driving, and sleep disorders. It begins by explaining the sleep cycle and stages of sleep. It recommends getting 7-9 hours of sleep per night for adults and lists consequences of lack of sleep like increased health risks. Tips are provided for better sleep like establishing a routine and sleep-friendly environment. Common sleep disorders like sleep apnea are described. The definition of drowsy is given as being ready to fall asleep. Drowsy driving is explained as being very dangerous due to increased risk of accidents. Factors that could contribute to drowsy driving are listed.
The document discusses dysautonomia and Postural Orthostatic Tachycardia Syndrome (POTS). It defines POTS as excessive increase in heart rate when upright, and describes its two main forms - neuropathic POTS caused by loss of vasoconstriction and hyperadrenergic POTS with increased norepinephrine. Treatment depends on the form but may include physical countermaneuvers, salt, water, medications and exercise. Postural vasovagal syncope, characterized by fainting, is the most common type of orthostatic intolerance.
The document discusses various primary immunodeficiency syndromes including T cell deficiencies like DiGeorge syndrome and X-linked hyper IgM syndrome. It also covers combined B- and T-cell immunodeficiencies such as severe combined immunodeficiency disease (SCID) as well as acquired immunodeficiency diseases and diseases of immune dysregulation including hemophagocytic lymphohistiocytosis (HLH), X-linked lymphoproliferative syndrome, and HIV/AIDS. Treatment options discussed include bone marrow transplantation, gene therapy, and highly active antiretroviral therapy. Outcomes for children with immunodeficiencies depend on timely diagnosis, adequate treatment and surveillance, and the underlying disease.
This document summarizes immunodeficiency disorders, including deficiencies of the innate immune system and other well-defined syndromes. It discusses clinical presentations and treatments for disorders like chronic granulomatous disease, hyper IgE syndrome, complement deficiencies, selective IgA deficiency, common variable immunodeficiency, Wiskott-Aldrich syndrome, ataxia telangiectasia, and IRAK-4 deficiency. The conclusion emphasizes that immunodeficiency disorders have a variety of genetic causes and treatments including antibiotics, immunoglobulin therapies, stem cell transplantation, and gene therapy.
Incidence, Management and Outcome of Tracheobronchitis in a Tracheostomized H...Pediatric Home Service
This study examined the incidence, management, and outcomes of tracheobronchitis in 225 tracheostomized patients followed through a pediatric home care service over one year. The study found an incidence of tracheobronchitis of 4.1 episodes per 1,000 tracheostomy days, with 60% of patients experiencing at least one episode. Tracheobronchitis was typically managed through telephone consultations and antibiotic treatment. Younger age and use of a ventilator were associated with higher risks of tracheobronchitis and hospitalization.
PHS was invited to present at the local APHON (Association of Pediatric Hematology/Oncology Nurses) meeting in September. PHS IV nurse Jill Wall, RN, BSN, CRNI, presented on the scope of home infusion and all that PHS does to ensure our patients thrive at home.
Dr. Roy Maynard presented on influenza vaccinations. He discussed the history of vaccinations beginning with Edward Jenner using cowpox to inoculate against smallpox. Vaccines work by improving immunity to specific diseases. Influenza is caused by influenza A, B, or C viruses and spreads through droplets. Antigenic drift and shift lead to new strains. Complications can include pneumonia. Vaccines are recommended to prevent influenza illness and death.
This document provides an overview of immunology, including the anatomy and functions of the immune system. It describes the innate immune system, such as physical barriers and phagocytic cells, and the adaptive immune system, focusing on antibodies and T lymphocytes. It also summarizes the different types of hypersensitivity reactions.
This document reviews the literature on tracheobronchitis and summarizes key findings from studies. It was found that microbiological colonization in trached patients is dynamic and often different from initial hospitalization. Surveillance cultures are not helpful in guiding treatment. The standard of care for managing episodes varies. A prospective study was proposed to document the frequency and risk factors for tracheobronchitis episodes in home tracheostomy patients.
Pulmonary hypertension in infants and children can be neonatal, cardiac-related, acquired, or idiopathic. The gold standard test to confirm pulmonary hypertension is cardiac catheterization. Current pharmacologic treatments target three pathways - the endothelin pathway, nitric oxide pathway, and prostacyclin pathway. Combination drug therapy and non-pharmacologic options like atrial septostomy may also be used, but pulmonary hypertension remains a challenging condition to treat in children.
Cystic fibrosis is a genetic disease caused by a defect in the CFTR protein. This defect causes thick, sticky mucus to build up in the lungs, digestive tract and other organs. The document discusses the clinical manifestations of cystic fibrosis including lung and gastrointestinal symptoms. It covers the genetics, diagnosis through sweat testing, complications like infections and nutritional deficiencies. Treatments include airway clearance techniques, enzymes, vitamins and antibiotics. Outcomes have improved in recent decades due to earlier diagnosis and new therapies, though lung function decline remains associated with poorer nutrition.
The document provides an overview of bronchopulmonary dysplasia (BPD), discussing its epidemiology, pathophysiology, definitions, clinical presentation, management, and goals of treatment. It describes both the "old" and "new" forms of BPD, and compares the histopathology and clinical features. The management of BPD focuses on nutrition, medications, oxygen therapy, and goals for transitioning patients from mechanical ventilation to home.
TEST BANK For Community Health Nursing A Canadian Perspective, 5th Edition by...Donc Test
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These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Cell Therapy Expansion and Challenges in Autoimmune DiseaseHealth Advances
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
In addition to infrastructure and capacity constraints, CAR-Ts face a very different risk-benefit dynamic in autoimmune compared to oncology, highlighting the need for tolerable therapies with low adverse event risk. CAR-NK and Treg-based therapies are also being developed in certain autoimmune disorders and may demonstrate favorable safety profiles. Several novel non-cell therapies such as bispecific antibodies, nanobodies, and RNAi drugs, may also offer future alternative competitive solutions with variable value propositions.
Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
Does Over-Masturbation Contribute to Chronic Prostatitis.pptxwalterHu5
In some case, your chronic prostatitis may be related to over-masturbation. Generally, natural medicine Diuretic and Anti-inflammatory Pill can help mee get a cure.
2. Objectives
• Identify clinical signs of impending
respiratory failure
• List 3 lung function tests used to
monitor patients with neuromuscular
disease for respiratory failure
• Define Non-Invasive Ventilation
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10. Duchenne Muscular Dystrophy
• Genetics
– X-linked recessive (males)
– Chromosome X, DMD gene
• Cause
– Dystrophin protein needed for muscle cell interaction
• Onset
– 2-6 years of age degenerative disease
• Symptoms
– Proximal muscle weakness, affects respiratory and
cardiac muscle
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11. Duchenne Muscular Dystrophy
http://upload.wikimedia.org/wikipedia/commons/4/49/Duchenne-muscular-dystrophy.jpg
Accessed on September 20, 2010
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14. Nemaline Myopathy
• Genetics
– Autosomal recessive and dominant forms
– First discovered in 1956 by Dr. Reyes
– 1/50,000 births
– 6 different mutations identified
• Onset
– Infancy and early childhood
• Clinical presentation
– Face, neck and proximal muscle weakness
– Absent deep tendon reflexes (DTR), normal creatinine
kinase
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16. Myotubular Myopathy
• A form of centronuclear myopathy
• Genetics
– X-linked recessive
– Autosomal recessive and dominant
• Onset
– Birth for X-linked recessive
– Infancy and childhood for autosomal recessive
– Adult for autosomal dominant
• X-linked is most common form and most severe
• Clinical
– Hypotonia, respiratory pump failure, scaphocephaly
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17. Myotubular Myopathy
http://www.mtmrg.org/MTM%20Article%20by%20CR.PDF
Accessed 9/20/10
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18. Myotubular Myopathy
http://www.mtmrg.org/MTM%20Article%20by%20CR.PDF
Accessed 9/20/10
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25. Congenital Fiber-Type Disproportion
• Genetics
– 3 different mutations, usually present first year of
life
• Clinical
– Hypotonia, weakness, delayed motor development
first year of life
– 90% static or slow improvement over time
– Contractures at birth
– Scoliosis
– Dislocated hips
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26. Congenital Fiber-Type Disproportion
http://brain.oxfordjournals.org/content/vol128/issue7/images/large/awh511f5.jpeg
Accessed 9/20/10
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29. SMA
• Genetics
– Autosomal recessive
– 1/6000 births
– 1/40 carriers
– SMA1 and SMA2 identified to chromosome 5q
in 1995
– Variable based on specific genetic defect
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30. SMA Types
• Type 1
• Type 2
• Type 3
• Type 4
• Non-5q-SMA’s
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31. Incidence SMA at Birth
12%
Type 1
27% 60% Type 2
Type 3
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32. Prevalence SMA in Population
14%
35%
Type 1
Type 2
Type 3
51%
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33. SMA Type 1
• Werdnig-Hoffman Disease
• Severe
• Age of onset 0-6 months
• Never sits, flaccid paralysis, absent deep
tendon reflexes, tongue fasiculations
• Life expectancy < 2 years
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35. SMA Type 2
• Intermediate severity
• Age of onset 7-18 months
• Sits but never stands
• Life expectancy > 2 years
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36. SMA Types 3 and 4
• SMA 3
– Kugelberg-Welander Disease
– Mild severity
– Age of onset > 18 months
– Function stands and walks
– Life expectancy - adult
• SMA 4 (adult form – rare)
– Very mild severity
– Presents 2nd and 3rd decade
– Ambulatory
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39. Anterior Horn Cell Disease
http://www.anatomyatlases.org/MicroscopicAnatomy/Images/Plate89.jpg and
www.anatomyatlases.org/MicroscopicAnatomy/Section06/Plate0689.shtml
Accessed both websites 9/20/10
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40. Classification:
Diseases of the Neuromuscular Junction
• Congenital myasthenic syndromes
• Myasthenia gravis
– Acetylcholine junction
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41. Pathophysiology of Myasthenia Gravis
http://jama.ama-assn.org/content/vol293/issue15/images/medium/jpg0420f1.jpg
Accessed 9/20/10
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43. Complications of Neuromuscular Disease
• Scoliosis
• Bulbar Dysfunction
– Swallowing dysfunction, speech
• Osteoporosis
• Respiratory Failure
• Cardiomyopathy/Congestive Heart
Failure
• Early Death
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44. Monitoring for Respiratory Failure
• Serial monitoring of lung function when able to
be performed (> 5 years of age)
– FVC < 1 liter
• Close monitoring, consider NIV
– FVC < 40% of predicted (nocturnal hypoventilation)
• Refer for polysomnography
– MIP < 40 cm H2O MEP < 45 cm H2O
• Polysomnography, consider day/night CO2
– Peak Cough Flows < 270 L/min in older children
• Monitor closely for respiratory failure
– Wheelchair bound
• Consider overnight sleep monitoring
– Upper airway obstruction
• Adenotonsillectomy (CPAP if no hypertrophy)
– Chronic hypercarbia or acute respiratory failure
• NIV
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51. NIV and Airway Clearance
• First used in the 1960’s
• First suggested for use in 1980’s for NMD
• May reduce incidence of respiratory
infections
• Techniques to improve pulmonary toilet –
breath stacking, cough assist devices
• Possible benefit of high-frequency chest
wall oscillation and intrapulmonary
percussive ventilation
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52. Non-Invasive Ventilation
• According to international consensus,
NIV is defined as any form of
ventilatory support applied without
endotracheal intubation and includes
bipap, cpap and other modes
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55. Conclusions
• Marked improvement in management of
respiratory complications of neuromuscular
disease in past 15 years
• Serial monitoring for progressive respiratory
pump failure necessary to minimize pulmonary
complications
• Early implementation of therapies to treat
hypoventilation and promote airway clearance
may augment quality and quantity of life
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