X-linked myopathy with excessive autophagy

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]

X-linked myopathy with excessive autophagy (XMEA) does not usually cause problems in other organs besides the muscles.^[2] In most affected people, there are no problems with the heart, lungs, or central nervous system.

However, a 2005 article by Yan et al. described two brothers who had a severe form of XMEA, which was present from birth. One brother had breathing problems and needed to use a respirator to breathe. He had delayed motor milestones and a high-arched palate (roof of the mouth). He also has two problems with his heart. One was a delay in the electrical impulses that make the heart beat called incomplete cardiac right bundle branch block. The other was an enlarged muscle on the left side of the heart, called left ventricular hypertrophy. His older brother had similar symptoms, except that he did not have heart problems.^[3]

The authors of another study reported lung problems in two people with XMEA. One person died from lung failure and the other person had decreased lung capacity. The authors suggested that people with XMEA should have their lung function monitored.^[4]