X-linked myopathy with excessive autophagy

Disease Overview

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 begins in childhood that slowly worsens over time. Weakness involving the upper legs is typically noticed first, affecting activities such as running and climbing stairs. As the condition progresses, men with XMEA may experience weakness in their lower legs and arms. Some people with XMEA remain able to walk as they get older, while others require assistance in adulthood. This disorder is caused by mutations in the VMA21 gene and is inherited in an X-linked recessive fashion.[3633][4468]

Synonyms

• XMEA
• Myopathy, X-linked, with excessive autophagy