Myotonic dystrophy
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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.
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MYOTONIC DYSTROPHY
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.
Cmtppt
Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders that damage the peripheral nerves, causing muscle weakness, loss of sensation in the feet and hands, and deformities. CMT is caused by genetic mutations that affect the myelin sheath or axons in the nerves. There are several types of CMT including CMT1, CMT2, CMT4 and CMTX, which are distinguished by their genetic causes and symptoms. Currently there is no cure for CMT but treatment focuses on managing symptoms through physical therapy, bracing, and surgery. Researchers are investigating potential new treatments to help prevent disability and progression of the disease.
Myotonic dystrophy
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.
Muscular dystrophy
This document summarizes several skeletal muscle diseases or myopathies. It describes the clinical features of proximal limb weakness seen in many myopathies. It then discusses different patterns of muscle weakness including intermittent weakness seen in conditions like myasthenia gravis and persistent weakness seen in muscular dystrophies. Several specific muscular dystrophies are then described in detail including Duchenne muscular dystrophy, Becker muscular dystrophy, limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, and congenital muscular dystrophies. For each, the document outlines epidemiology, etiology, symptoms, laboratory/diagnostic findings, treatment, and complications.
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This document provides an overview of syringomyelia, including its pathogenesis, pathology, classification, clinical features, and natural history. Syringomyelia is a condition characterized by fluid-filled cavities within the spinal cord. It most commonly affects the cervical and thoracic regions. Clinical features include pain and sensory loss. The natural history varies, but symptoms typically progress slowly over years, with some patients experiencing stabilization or spontaneous resolution in rare cases.
Myotonic muscle disorders
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.
Hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders characterized by the progressive stiffening and weakening of the lower limbs. The most common symptoms are difficulty walking and lifting the toes. HSP results from degeneration of nerve fibers in the spinal cord that control the lower body, and can be caused by mutations affecting axonal transport, mitochondria, or myelin. While there is no cure, treatment focuses on physical therapy, medication to reduce spasticity and pain, and addressing complications like contractures.
Syringomyelia
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.
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MYOTONIC DYSTROPHY
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.
Cmtppt
Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders that damage the peripheral nerves, causing muscle weakness, loss of sensation in the feet and hands, and deformities. CMT is caused by genetic mutations that affect the myelin sheath or axons in the nerves. There are several types of CMT including CMT1, CMT2, CMT4 and CMTX, which are distinguished by their genetic causes and symptoms. Currently there is no cure for CMT but treatment focuses on managing symptoms through physical therapy, bracing, and surgery. Researchers are investigating potential new treatments to help prevent disability and progression of the disease.
Myotonic dystrophy
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.
Muscular dystrophy
This document summarizes several skeletal muscle diseases or myopathies. It describes the clinical features of proximal limb weakness seen in many myopathies. It then discusses different patterns of muscle weakness including intermittent weakness seen in conditions like myasthenia gravis and persistent weakness seen in muscular dystrophies. Several specific muscular dystrophies are then described in detail including Duchenne muscular dystrophy, Becker muscular dystrophy, limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, and congenital muscular dystrophies. For each, the document outlines epidemiology, etiology, symptoms, laboratory/diagnostic findings, treatment, and complications.
Syringomyelia
This document provides an overview of syringomyelia, including its pathogenesis, pathology, classification, clinical features, and natural history. Syringomyelia is a condition characterized by fluid-filled cavities within the spinal cord. It most commonly affects the cervical and thoracic regions. Clinical features include pain and sensory loss. The natural history varies, but symptoms typically progress slowly over years, with some patients experiencing stabilization or spontaneous resolution in rare cases.
Myotonic muscle disorders
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.
Hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders characterized by the progressive stiffening and weakening of the lower limbs. The most common symptoms are difficulty walking and lifting the toes. HSP results from degeneration of nerve fibers in the spinal cord that control the lower body, and can be caused by mutations affecting axonal transport, mitochondria, or myelin. While there is no cure, treatment focuses on physical therapy, medication to reduce spasticity and pain, and addressing complications like contractures.
Syringomyelia
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.
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Klippel-Feil syndrome is a congenital condition where two or more cervical vertebrae are fused. It is caused by mutations in genes GDF6 and GDF3 which regulate bone growth. People with Klippel-Feil syndrome have a short neck, limited neck movement, and sometimes scoliosis. Diagnosis involves x-rays and MRIs showing fused vertebrae. Treatment focuses on pain management through medications, physical therapy, and sometimes surgery to correct spinal abnormalities.
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Dystonia is a movement disorder in which a person's muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures. Dystonia can affect one muscle, a muscle group, or the entire body.
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Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders. It comprises a group of disorders that affect the peripheral nerves, causing their gradual degeneration. There are several types of Charcot-Marie-Tooth disease that are caused by mutations in genes encoding proteins involved in the structure and function of the peripheral nerve axon or myelin sheath. Symptoms include weakness in the feet and lower legs, muscle wasting, and deformities of the feet. There is currently no cure for Charcot-Marie-Tooth disease, but treatment aims to correct deformities and muscle imbalances through procedures like tendon transfers and osteotomies.
myotonic dystrophy
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.
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Dystonia is a neurological movement disorder characterized by involuntary muscle contractions that cause abnormal, repetitive movements or postures. It results from abnormalities in the basal ganglia region of the brain that controls movement. Dystonia can affect people of all ages and ethnicities. Symptoms may include twisting, repetitive motions, or abnormal positions of the arms, legs, trunk, face or vocal cords. It can be classified by age of onset, affected body areas, and underlying cause (primary/secondary). Treatment involves botulinum toxin injections, medications, physiotherapy, and sometimes surgery to interrupt pathways in the nervous system responsible for the abnormal movements.
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This document discusses different types of muscle disease. It begins by describing the anatomy of skeletal muscle and defining muscle disease as any primary disease of the muscular system related to changes in the muscles. It then outlines six main types of muscle disease: muscular dystrophies, myotonic myopathies and disorders, inflammatory muscle diseases, myasthenic muscle diseases, metabolic myopathies, and endocranial myopathies. Within each type, several specific conditions are described in brief, including Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and distal muscular dystrophy. The document provides details on clinical features, investigations, and treatment for some of the major muscular dyst
-MUSCULAR-DYSTROPHY- as a disease(focus on DEV BIO).pptx
Muscular dystrophy is a genetic disease that causes progressive muscle weakness and degeneration. There are over 30 types of muscular dystrophy that differ in severity, onset, and muscles affected. Common symptoms include progressive muscle weakness, loss of mobility, and damage to heart, lungs and other organs in some cases. The document discusses several specific types of muscular dystrophy like Duchenne MD, Becker MD, limb girdle MD and myotonic MD. It covers their causes, inheritance patterns, symptoms and management options.
muscular dystrophy
Duchenne muscular dystrophy is a genetic condition characterized by progressive muscle weakness and defects in muscle proteins. It is caused by an absence of the dystrophin protein due to mutations in the DMD gene located on the X chromosome. This weakens the connection between muscle proteins and cell membranes, allowing calcium to enter cells and cause muscle fiber damage and wasting. Symptoms begin in childhood and include difficulty walking, joint contractures, and cardiac issues. Diagnosis involves muscle biopsies, genetic testing, and elevated muscle enzyme levels. It primarily affects boys and is the most common and severe form of muscular dystrophy.
Duchene muscular dystrophy
muscle degeneration and weakness. It is one of nine types of muscular dystrophy.(most common and sever clinical symptoms)
Myopathies and myotonic dystrophies
This document provides an overview of myopathies and muscular dystrophies. It begins with an introduction to inherited muscle diseases and their common presentations. It then discusses the key differences between muscular dystrophies, which involve muscle membrane or supporting proteins, and myopathies, which involve genetic defects in the muscle contractile apparatus. The document outlines best practices for muscle biopsy collection and preparation. It provides details on interpreting muscle biopsy specimens and fiber typing. Several specific myopathies and dystrophies are then described in depth, including Duchenne and Becker muscular dystrophies, myotonic dystrophy, Emery-Dreifuss muscular dystrophy, and facioscapulohumeral dystrophy. Clinical features, pathogenesis
Duschenne’s Muscular Dystrophy
Duschenne Muscular Dystrophy is an X-linked form of muscular dystrophy caused by a mutation in the dystrophin gene which codes for the dystrophin protein that provides structural stability to muscle tissue. It was first described in the 1830s and is named after French neurologist Guillaume Duchenne. Symptoms include muscle weakness, frequent falls, difficulty walking, and enlarged calf muscles. There is no cure, but treatments focus on managing symptoms to maximize quality of life through corticosteroids, physical therapy, and exercise.
Gene therapy for muscular dystrophy
Molecular diagnosis of muscular dystrophy.
Gene therapy strategies for muscular dystrophy.
Biotechnology techniques
Myopathies
This document provides an overview of the approach to evaluating and diagnosing myopathies. It discusses the clinical features of various myopathies including muscular dystrophies like Duchenne's and Becker's, metabolic myopathies, channelopathies, hypothyroidism/hyperthyroidism, and inflammatory myopathies like dermatomyositis and polymyositis. Laboratory evaluation includes serum enzymes, electrodiagnostic studies, DNA analysis and muscle biopsy. Management involves corticosteroids and immunosuppressive drugs.
(DMD)Duchenne muscular dystrophy-dr mohamed abunada
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.
Muscular dystrophy
Muscular dystrophy is a group of inherited progressive disorders caused by defects in genes required for normal muscle function. The document focuses on Duchenne muscular dystrophy and Becker muscular dystrophy, which result from mutations in the dystrophin gene located on the X chromosome. Duchenne muscular dystrophy is more severe and common, causing weakness starting at age 2-3 and loss of ambulation by age 12. Becker muscular dystrophy has a milder course with ambulation beyond age 15 but reduced life expectancy. Management involves physiotherapy, occupational therapy, treatment of cardiac and respiratory complications, and steroids which can prolong ambulation in Duchenne muscular dystrophy.
Similar to Myotonic dystrophy (18)
Muscular dystrophy: Group of more than 30 inherited diseases.
Muscular dystrophy: Group of more than 30 inherited diseases.
-MUSCULAR-DYSTROPHY- as a disease(focus on DEV BIO).pptx
-MUSCULAR-DYSTROPHY- as a disease(focus on DEV BIO).pptx
(DMD)Duchenne muscular dystrophy-dr mohamed abunada
(DMD)Duchenne muscular dystrophy-dr mohamed abunada
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Myotonic dystrophy
- 2. Myotonic dystrophy Myotonic dystrophy also known as steinerts disease In this type of muscular dystrophy stiffnes in muscle occur due to this inability to relaxe muscle at own will specifically called myotonia(prolonged muscle contraction) Volunatry muscle become weaker Muscle weakness is also another type of muscular dystrophy
- 3. Due to absence of muscle protein dystrophine Progressive crippling, resulting in contractures of the muscles around your joints and loss of mobility
- 4. This begins in adulthood Myotonic dystrophy affects at least 1 in 8000 people worldwide mostly male affected DMD- before 5 years ,BMD- between 5-12 Upper arms , upper legs firstly show weakness Other body parts also affected….. Hearts, diaphragm, chest muscle etc and so on……….
- 5. Genetic correlation and causes The genetic change (mutation) that causes Myotonic Dystrophy is in the DMPK gene which code for myotonic dystrophy protein kinase found on long arm of chromosome 19. Dmpk predominantly expressed in skeletal muscle Cytosine-thymine-gyuanine(CTG) triplet repeat in the dmpk gene.
- 6. symptoms
- 9. Treatment No cure for any form of muscular dystrophy genetic therapy Stretching exercises and postural changing Goal is to maintain or improve muscle strength and maximize functional ability – slight improvement is possible Surgery for tendon release