National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

X-linked myopathy with excessive autophagy


Other Names:
XMEA; Myopathy, X-linked, with excessive autophagy
Categories:
This disease is grouped under:

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.[1][2]

Last updated: 12/22/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Flexion contracture
Flexed joint that cannot be straightened
0001371
Limited extraocular movements 0007941
Motor delay 0001270
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Respiratory insufficiency
Respiratory impairment
0002093
Scoliosis 0002650
Percent of people who have these symptoms is not available through HPO
Difficulty climbing stairs
Difficulty walking up stairs
0003551
Difficulty running 0009046
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Gowers sign 0003391
Incomplete penetrance 0003829
Myopathy
Muscle tissue disease
0003198
Myotonia 0002486
Proximal muscle weakness in lower limbs 0008994
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Slow progression
Signs and symptoms worsen slowly with time
0003677
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020

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.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.
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: 12/22/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Study of Inherited Neurological Disorders which may be of interest to you.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked myopathy with excessive autophagy. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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? See answer


  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.