Overview
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome is a rare inherited disease that affects the mitochondria — the tiny power plants inside your cells that produce energy. When mitochondria do not work properly, the cells that need the most energy, especially in the muscles, brain, and eyes, are hit the hardest. This condition is sometimes referred to by the abbreviation MCARS or described as a mitochondrial multi-system disorder. The three main areas affected give the disease its name. 'Mitochondrial myopathy' means the muscles become weak because they cannot get enough energy. 'Cerebellar ataxia' refers to problems with balance and coordination caused by damage to the cerebellum, the part of the brain that controls movement. 'Pigmentary retinopathy' means the light-sensitive layer at the back of the eye (the retina) slowly breaks down, leading to vision problems. People with this condition may notice muscle weakness, difficulty walking steadily, and gradual loss of vision, often starting in childhood or early adulthood. Other symptoms can include hearing loss, fatigue, and problems with other organs. There is currently no cure, but supportive treatments can help manage symptoms and improve quality of life. A team of specialists working together is the best approach to care.
Key symptoms:
Muscle weakness, especially in the arms and legsPoor balance and unsteady walking (ataxia)Gradual loss of vision, especially night visionSeeing a narrowing of your field of vision (tunnel vision)Extreme tiredness and low energyHearing lossDifficulty with fine motor tasks like writing or buttoning clothesSlurred or slow speechEye movement problemsExercise intolerance — feeling exhausted after minimal physical activity
Clinical phenotype terms (47)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene change has been found in my case, and what does it mean for my prognosis?,Should other family members be tested, and what are the chances of passing this on to my children?,What supplements or mitochondrial cocktail do you recommend, and how will we know if they are helping?,Are there any medications or supplements I should avoid because they could make my mitochondria work worse?,How often should I have my heart, eyes, and hearing checked?,Are there any clinical trials I might be eligible for?,What signs should prompt me to go to the emergency room, and what should I tell the ER doctors about my condition?
Common questions about Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
What is Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome?
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome is a rare inherited disease that affects the mitochondria — the tiny power plants inside your cells that produce energy. When mitochondria do not work properly, the cells that need the most energy, especially in the muscles, brain, and eyes, are hit the hardest. This condition is sometimes referred to by the abbreviation MCARS or described as a mitochondrial multi-system disorder. The three main areas affected give the disease its name. 'Mitochondrial myopathy' means the muscles become weak because they cannot get enough
How is Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome inherited?
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome?
3 specialists and care centers treating Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.