Myopathy, X-linked, with excessive autophagy


Type of disease: Rare conditions

X-Linked Myopathy with Excessive Autophagy (XMEA) is a type of inherited myopathy (muscle disease) that mainly affects males. It is characterized by muscle weakness that slowly worsens over time. Weakness involving the upper legs, affecting activities such as running and climbing stairs, may be noticed first. As the condition progresses, men with XMEA may experience weakness in their lower legs and arms. Some people with XMEA remain able to walk in advanced age, while others require assistance in adulthood. It is caused by mutations in the VMA21 gene and is inherited in an X-linked recessive fashion. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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