Congenital muscular dystrophy

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Congenital Muscular dystrophy

Age at onset: birth; symptoms include general muscle weakness and possible joint deformities; disease progresses slowly; varied life spans, although some forms of Congenital MD do not effect life span at all. It is the term used to describe muscular dystrophy present from at or near birth. All such known dystrophies are genetically recessive in nature and result from mutation in a variety of different genes including those encoding the laminin alpha 2 chain, fukutin related protein, LARGE and fukutin amongst others. Currently there is no cure. Physical and occupational therapy, surgeries, wheelchairs and other assistive technology may be helpful.

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 v • d • e Muscular Dystrophy
The Nine Primary Muscular Dystrophies
Becker's • Congenital • Duchenne • Distal • Emery-Dreifuss • Facioscapulohumeral • Limb-girdle muscular dystrophy • Myotonic • Oculopharyngeal
Other diseases generally classified as Muscular Dystrophy
Spinal Muscular Atrophies Amyotrophic lateral sclerosis • Infantile Spinal Muscular Atrophy • Intermediate Spinal Muscular Atrophy • Juvenile Spinal Muscular Atrophy • Adult Spinal Muscular Atrophy
Inflammatory Myopathies Dermatomyositis • Polymyositis
Diseases of Peripheral Nerve Charcot-Marie-Tooth disease • DeJerine-Sottas Disease • Friedreich's Ataxia
Diseases of the Neuromuscular Junction Myasthenia gravis • Lambert-Eaton myasthenic syndrome
Metabolic Diseases of the Muscle Acid Maltase Deficiency • Carnitine Deficiency • Carnitine Palmityl Transferase Deficiency • Debrancher Enzyme Deficiency • Lactate Dehydrogenase Deficiency • Mitochondrial Myopathy • Myoadenylate Deaminase Deficiency • Phosphorylase Deficiency • Phosphofructokinase Deficiency • Phosphoglycerate Kinase Deficiency
Less Common Myopathies Central Core Disease • Hyperthyroid Myopathy • Myotonia Congenita • Myotubular Myopathy • Nemaline myopathy • Paramyotonia Congenita • Periodic paralysis
Organizations and National events
Muscular Dystrophy Association • Jerry Lewis MDA Telethon • National Institute of Neurological Disorders and Stroke • National Institute of Arthritis and Musculoskeletal and Skin Diseases


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