Living with Pure mitochondrial myopathy
A rare mitochondrial muscle disease with slowly worsening limb weakness and tiredness, affecting only the muscles.
Understanding Pure mitochondrial myopathy
It causes slowly worsening weakness in the limbs, wasting of muscles near the body's center, and eye muscle differences like drooping eyelids. People may have muscle pain, easy tiredness during or after activity, and trouble swallowing. GARD lists onset in childhood and the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the upper arms and thighs
- Trouble with exercise and tiredness after activity
- Trouble running or climbing stairs
- Weak neck muscles
- Waddling walk and frequent falls
- Weak shoulder and hip muscles
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation and other patient organizations
- 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 lists mitochondrial inheritance, meaning it relates to the cell's energy-making parts. It doesn't name a gene here.
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pure mitochondrial myopathy.
Explore research for Pure mitochondrial myopathy
Explore actively recruiting Pure mitochondrial myopathy studies with HealthSpark.
Find actively recruiting studies for Pure mitochondrial myopathy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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