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.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Difficulty climbing stairs||-|
|Elevated serum creatine phosphokinase||-|
|Proximal muscle weakness in lower limbs||-|
|Skeletal muscle atrophy||-|
|X-linked recessive inheritance||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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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? See answer