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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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Your Question

Two years ago I was diagnosed with X-linked myopathy with excessive autophagy. My concern is ensuring that this disease is not going to effect my heart or lungs. There is also no information on how to deal with this disease. I have always been active in sports and weight lifting all my life. Going up stairs and getting out of chairs continues to be more difficult. I read articles about what the problems will be - but I read nothing as to what I can do to make my life and pain more manageable. Has anyone with this condition ever had heart issues?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

Does X-linked myopathy with excessive autophagy affect any organ systems besides the muscles?

X-linked myopathy with excessive autophagy (XMEA) is typically not associated with involvement of other organ systems.[2] In most affected individuals, there is no cardiac (heart), respiratory or central nervous system involvement. However, a 2005 article by Yan et al. reported one family in which 2 male siblings had a severe, congenital form of XMEA. One sibling had neonatal hypoventilation requiring mechanical ventilation; delayed motor milestones; a high-arched palate (roof of the mouth); incomplete cardiac right bundle branch block (delay or blockage where electrical impulses travel to make the heart beat); and left ventricular hypertrophy (enlargement of the muscle in the wall of the left ventricle). His older brother had similar findings but without the cardiac involvement.[3] The authors of another study discussed that one affected individual died from acute respiratory failure and another individual had a decreased vital capacity. Therefore, they suggested that pulmonary function be monitored in affected individuals.[4]
Last updated: 10/10/2011