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MUSCULAR DYSTROPHY There are many muscle disorders and they come in various kinds. Neuropathies For example : Spinal Muscular Atrophy [SMA] Hereditary motor and sensory neuropathies e.g. Charcot Inflammatory Myopathies For example : Duchenne Muscular Dystrophy Becker Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy Congenital Dystrophies Limb girdle Muscular Dystrophy
Duchenne is the commonest myopathy. Usually presents when the child is aged between 2 and 4 years with difficulty walking, running, jumping or no ability to hop or pseudo hypertrophy of muscle. Diagnosis is often not confirmed until age of 5. Half the boys presenting have delayed walking (after 18 months), half have delayed speech and some boys are cognitively challenged. Lose ability to walk between age 6 - 12 (average 9 years). Walking can be extended by about 2 years by provision of specialist orthotics, [KAFO’s]. Once the boy has stopped walking they can rapidly develop scoliosis which increases during puberty. Becker Dystrophy [Less severe than Duchenne]. Presents usually when child at school with difficulty with sports and muscle cramps on exertion Survival rate into ages 20’s and 30’s. Congenital Muscle Dystrophies These are non-progressive - the child is born weak and is always weak. Early diagnosis is important so that the child does not develop severe contractures. Arthrogryposis Can present muscle dystrophy with arthogryposis. Thought to be caused by not being able to move in the womb. Myotonic Dystrophy [The most common neuromuscular disorder] If mother affected the baby will probably be severely affected and the disease manifests in childhood. If the father affected, the child only becomes affected as an adult. Emery Dreifuss Presents in older children as tip-toe walkers. They have very stiff spines and elbow deformities. It is a non-progressive disease but patients affected are prone to heart block and cardiomyopathies.
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