Living with X-linked myopathy with excessive autophagy
An inherited muscle disease, mainly in males, that begins with weakness in the upper legs.
Understanding X-linked myopathy with excessive autophagy
Weakness in the upper legs is usually noticed first, for activities like running and climbing stairs. As it progresses, weakness can spread to the lower legs and arms. It can begin at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the upper legs
- Thigh muscle wasting
- Trouble running and climbing stairs
- Later, weakness in the lower legs and arms
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in VMA21 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
XMEA is caused by changes in the VMA21 gene. It is inherited in an X-linked recessive way.
Also known as: autophagic vacuolar myopathy; avm; myopathy, x-linked, with excessive autophagy, x-linked recessive; vacuolar myopathy; xmea
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked myopathy with excessive autophagy.
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