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Myopathy, X-linked, with excessive autophagy
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Myopathy, X-linked, with excessive autophagy : ウィキペディア英語版
Myopathy, X-linked, with excessive autophagy

X-linked myopathy with excessive autophagy (XMEA) is a rare childhood onset disease characterized by slow progressive vacuolation and atrophy of skeletal muscle. There is no known cardiac or intellectual involvement.
==Clinical features==

The incidence of this disease is not precisely known but it is considered to be rare (< 1/106 population). It has been reported in 15 families to date mostly from Canada, Finland and France.
This disease usually presents between the ages of 5 to 10 years old. The usual picture is with weakness involving the upper legs and affects activities such as running and climbing stairs. As the condition progresses, patients tend to experience weakness in their lower legs and arms. Some remain able to walk in advanced age, while others require assistance in adulthood.

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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