Living with Autosomal dominant myoglobinuria
A rare inherited muscle condition with episodes of muscle pain and dark urine brought on by fever, infection, long exercise, or alcohol.
Understanding Autosomal dominant myoglobinuria
Episodes can be brought on by fever, viral or bacterial infection, prolonged exercise, or alcohol. Occasionally they can lead to sudden kidney failure. Between episodes, people may have no symptoms, or mild muscle weakness and raised creatine kinase.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Episodes of muscle pain (myalgia)
- Myoglobin in the urine
- Mild muscle weakness between episodes
- Raised creatine kinase on blood tests
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says it is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough to cause it. Episodes can be brought on by fever, infection, long exercise, or alcohol.
Also known as: myoglobinuria, autosomal dominant
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 Autosomal dominant myoglobinuria.
Explore research for Autosomal dominant myoglobinuria
Explore actively recruiting Autosomal dominant myoglobinuria studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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