Overview
Dilated cardiomyopathy with ataxia (DCMA syndrome) is a rare inherited condition that affects the heart and the nervous system. The name describes the two main problems: dilated cardiomyopathy, where the heart muscle becomes weak and enlarged and cannot pump blood properly, and ataxia, which means problems with balance and coordination. DCMA syndrome is also sometimes called 3-methylglutaconic aciduria type V or Costeff syndrome in older medical literature. The condition is caused by a change (mutation) in a gene called DNAJC19, which affects how mitochondria — the tiny energy-producing parts of cells — work. Because the heart and brain need a lot of energy, they are especially affected. Children with DCMA syndrome often show signs in infancy or early childhood, including a floppy or weak heart, difficulty with balance and walking, and slow growth. Some children also have mild intellectual difficulties, low blood sugar, and a condition called non-progressive cerebellar ataxia. There is currently no cure for DCMA syndrome. Treatment focuses on managing heart failure with standard heart medications, supporting nutrition and growth, and physical and occupational therapy to help with movement and daily activities. Regular monitoring by a team of specialists is very important to catch complications early and improve quality of life.
Also known as:
Key symptoms:
Enlarged, weakened heart (dilated cardiomyopathy)Problems with balance and coordination (ataxia)Difficulty walking steadilyPoor growth and low body weightLow blood sugar (hypoglycemia), especially in infancyMild intellectual disability or learning difficultiesMuscle weakness or low muscle toneAbnormal levels of a chemical called 3-methylglutaconic acid in the urineSlow or delayed motor developmentIrregular heartbeat (arrhythmia) in some casesMale genital abnormalities in some affected boys
Clinical phenotype terms (37)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Dilated cardiomyopathy with ataxia.
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Specialists
View all specialists →No specialists are currently listed for Dilated cardiomyopathy with ataxia.
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 Dilated cardiomyopathy with ataxia.
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1 articlesCaregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's heart condition right now, and what signs should make me call for emergency help?,What heart medications are recommended, and what side effects should I watch for?,How often does my child need echocardiograms and other heart monitoring tests?,What therapies are available to help with balance and coordination, and how often should my child attend?,Should other family members be tested as carriers of the DNAJC19 mutation?,Are there any clinical trials or research studies we could consider joining?,What support services or patient organizations exist for families affected by DCMA syndrome?
Common questions about Dilated cardiomyopathy with ataxia
What is Dilated cardiomyopathy with ataxia?
Dilated cardiomyopathy with ataxia (DCMA syndrome) is a rare inherited condition that affects the heart and the nervous system. The name describes the two main problems: dilated cardiomyopathy, where the heart muscle becomes weak and enlarged and cannot pump blood properly, and ataxia, which means problems with balance and coordination. DCMA syndrome is also sometimes called 3-methylglutaconic aciduria type V or Costeff syndrome in older medical literature. The condition is caused by a change (mutation) in a gene called DNAJC19, which affects how mitochondria — the tiny energy-producing parts
How is Dilated cardiomyopathy with ataxia inherited?
Dilated cardiomyopathy with ataxia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dilated cardiomyopathy with ataxia typically begin?
Typical onset of Dilated cardiomyopathy with ataxia is infantile. Age of onset can vary across affected individuals.