Living with 3-methylglutaconic aciduria type 5
An inherited condition, also called DCMA syndrome, that affects the heart, balance and coordination, and growth.
Understanding 3-methylglutaconic aciduria type 5
Starting in infancy to early childhood, most people develop dilated cardiomyopathy, an enlarged and weakened heart. Some have long QT syndrome, a rhythm problem that can cause fainting. By age 2, children have problems with balance and coordination (ataxia), and most grow slowly and have short stature. Many have mild intellectual disability, and some males have genital differences. Microcytic anemia and fatty buildup in the liver are also common. GARD lists onset as infant and child.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged, weakened heart (dilated cardiomyopathy)
- Balance and coordination problems (ataxia)
- Delayed motor skills
- Slow growth
- Anemia with small red blood cells
- Developmental delay
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in DNAJC19 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
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation
- 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 Organic Acidemia Association 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
Changes in the DNAJC19 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 3 alpha methylglutaconic aciduria type v; 3-methylglutaconic aciduria caused by mutation in dnajc19; 3-methylglutaconic aciduria type v; cardiomyopathy, dilated, with ataxia; dcma; dcma syndrome
Patient organizations
- Organic Acidemia Association3-methylglutaconic aciduria type 5 · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with 3-methylglutaconic aciduria type 5.
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