Living with Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
A rare mitochondrial muscle condition with muscle weakness, poor coordination, slow growth, and sometimes eye changes.
Understanding Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
It starts with delays in motor development in infancy, slow growth, and weakness mostly in the muscles close to the center of the body. A small part of the brain that helps with balance, the cerebellum, is smaller from early on, but this does not get worse over time. Some people also have learning difficulties, bone differences, tremors, and retina changes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness and low muscle tone
- Delays in reaching motor skills
- Slow growth
- Walking difficulty
- Delayed speech and language development
- Hearing impairment
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 MSTO1 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
National Ataxia Foundation, 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: National Ataxia Foundation, 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 National Ataxia 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 MSTO1 gene. GARD lists autosomal dominant and mitochondrial inheritance.
Also known as: mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome; mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome; mitochondrial myopathy, cerebellar atrophy, pigmentary retinopathy syndrome; myopathy, mitochondrial, and ataxia
Patient organizations
- National Ataxia FoundationMitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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