Living with Myoglobinuria, recurrent
A metabolic condition in which muscle fibers break down suddenly, so a muscle protein (myoglobin) passes into the urine.
Understanding Myoglobinuria, recurrent
It usually begins in childhood and is often set off by exertion or by an infection with fever. Common features include muscle stiffness and pain, kidney problems, and high levels of the muscle enzyme creatine kinase in the blood. It may occur sporadically or be inherited in a recessive or dominant way.
Signs & symptoms
GARD doesn't list a detailed symptom list, but the summary describes these features:
- Muscle stiffness
- Muscle pain
- Myoglobin in the urine
- Reduced kidney function
- High creatine kinase blood levels
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 changes in the mitochondrial genes MT-CO1 and MT-CO2 should be considered. Changes in the LPIN1 gene have also been reported in a few people. It may occur sporadically or be inherited.
Also known as: mt-cyb-related recurrent myoglobinuria; myoglobinuria, episodic; recurrent myoglobinuria
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 Myoglobinuria, recurrent.
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