Living with Proximal myopathy with focal depletion of mitochondria
A rare genetic muscle disease with mild, slowly worsening weakness and muscle pain with exercise.
Understanding Proximal myopathy with focal depletion of mitochondria
It causes mild weakness that slowly worsens, in muscles close to the center of the body. It starts late, from childhood to adulthood. Muscle pain during and after exercise can be severe, and muscle breakdown (rhabdomyolysis) can occur. Intellectual disability is mild or absent, and the skin is not affected.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Mild, slowly worsening weakness near the body's center
- Severe muscle pain during and after exercise
- Muscle breakdown (rhabdomyolysis)
- Mild or no intellectual disability
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 CHKB 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 Muscular Dystrophy Association 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, Muscular Dystrophy Association
- 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
This condition is caused by changes in the CHKB gene.
Patient organizations
- United Mitochondrial Disease FoundationProximal myopathy with focal depletion of mitochondria · United States
- Muscular Dystrophy AssociationProximal myopathy with focal depletion of mitochondria · United States
You are more than your diagnosis
Perspectives from people navigating life with Proximal myopathy with focal depletion of mitochondria.
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