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Limb-girdle muscular dystrophy : ウィキペディア英語版
Limb-girdle muscular dystrophy

LGMD has an autosomal pattern of inheritance and currently has no known cure.
It is similar to but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy.
==Presentation==
The term ''limb-girdle'' is used to describe these disorders because the muscles most severely affected are generally those of the hips and shoulders—the limb girdle muscles.
Symptoms of limb-girdle muscular dystrophy vary widely, but most commonly are muscle weakness and atrophy, myoglobinuria, myotonia, elevated serum CK, and, in ~20% of cases, cardiomyopathy.
The disease inevitably gets worse over time, although progression is more rapid in some patients than others. Eventually the disease can affect other muscles such as the ones located in the face. The disease commonly leads to dependence on a wheelchair within twenty to thirty years of symptom onset, but there is high inter-patient variability, with some patients maintaining mobility.
The muscle weakness is generally symmetric, proximal, and slowly progressive.
In most cases, pain is not present with LGMD, and mental function is not affected.
LGMD can begin in childhood, adolescence, young adulthood or even later. The age of onset is usually between 10 and 30. Both genders are affected equally. When limb-girdle muscular dystrophy begins in childhood the progression appears to be faster and the disease more disabling. When the disorder begins in adolescence or adulthood the disease is generally not as severe and progresses more slowly.
There is no sensory neuropathy or autonomic or visceral dysfunction at presentation. The specific dermatomes affected can be demonstrated clinically, and although lower limb deep tendon reflexes and plantar reflex are lost, abdominal reflexes are preserved.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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