Living with Autosomal dominant mitochondrial myopathy with exercise intolerance
A rare inherited muscle condition with weakness and trouble with exercise, starting in the first decade of life.
Understanding Autosomal dominant mitochondrial myopathy with exercise intolerance
It begins in the first decade of life with slowly worsening weakness in the upper legs and trouble with exercise. Weakness later spreads to the neck, shoulders, and lower legs, and still later the face. Lung function may be restricted and height may be short. Blood tests show high lactic acid and creatine kinase.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble with exercise
- Weakness in the upper legs
- Weakness in the lower legs
- Neck muscle weakness
- Weakness in facial muscles
- Short stature
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 CHCHD10 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 says changes in the CHCHD10 gene cause this condition. It lists autosomal dominant and mitochondrial inheritance.
Also known as: immd; myopathy, isolated mitochondrial, autosomal dominant
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 Autosomal dominant mitochondrial myopathy with exercise intolerance.
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