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Genetic and Rare Diseases Information Center (GARD)

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X-linked myopathy with excessive autophagy


Other Names for this Disease
  • Myopathy, X-linked, with excessive autophagy
  • XMEA
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Overview



What is X-linked myopathy with excessive autophagy?

How might X-linked myopathy with excessive autophagy be treated?


What is X-linked myopathy with excessive autophagy?

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.[1][2]
Last updated: 10/10/2011

How might X-linked myopathy with excessive autophagy be treated?

There are currently no specific treatments for individuals with X-linked myopathy with excessive autophagy (XMEA). Management is typically symptomatic and supportive, focusing on the specific signs and symptoms present in each individual.

For managing myopathies in general, physical therapy and exercise are important for maintaining strength. It is also important to practice good general health measures including a well-balanced nutritional diet, maintenance of normal weight and proper management of any other chronic illnesses.[3]
Last updated: 10/10/2011

References
  1. Myopathy, X-linked, with excessive autophagy. Online Mendelian Inheritance in Man. 2009; http://www.ncbi.nlm.nih.gov/omim/310440. Accessed 6/15/2011.
  2. VMA21. Genetics Home Reference. October 4, 2011; http://ghr.nlm.nih.gov/gene/VMA21. Accessed 10/10/2011.
  3. Myopathies. American College of Rheumatology. May 2008; http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/myopathies.asp. Accessed 10/10/2011.