Dilated cardiomyopathy with ataxia syndrome

Dilated Cardiomyopathy with Ataxia Syndrome (DCMA) is a rare genetic disorder characterized by heart muscle disease (dilated cardiomyopathy) and neurological symptoms, notably ataxia, which is a lack of muscle coordination affecting speech, eye movements, and the ability to swallow. This condition is also known by its acronym, DCMA, and is part of a group of disorders that affect the heart and nervous system.

Symptoms and Diagnosis[edit | edit source]

The primary feature of DCMA syndrome is dilated cardiomyopathy, a condition where the heart's ability to pump blood is decreased because its main pumping chamber, the left ventricle, is enlarged and weakened. Individuals with DCMA syndrome may also experience symptoms related to ataxia, including difficulties with balance and coordination. Other symptoms can include developmental delay, intellectual disability, and skeletal abnormalities. The diagnosis of DCMA syndrome is typically based on clinical evaluation, family history, and the presence of characteristic symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the gene associated with the syndrome.

Genetics[edit | edit source]

DCMA syndrome is caused by mutations in the DNAJC19 gene, which is located on chromosome 3q26.33. The DNAJC19 gene plays a crucial role in the maintenance of mitochondrial function and energy production within cells. Mutations in this gene disrupt normal mitochondrial function, leading to the symptoms observed in DCMA syndrome. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.

Treatment and Management[edit | edit source]

There is no cure for DCMA syndrome, and treatment is symptomatic and supportive. Management of dilated cardiomyopathy may include medications to improve heart function, such as ACE inhibitors, beta-blockers, and diuretics. Individuals with severe cardiomyopathy may require mechanical support or heart transplantation. Management of ataxia and other neurological symptoms may involve physical therapy, occupational therapy, and speech therapy to improve coordination and communication skills. Regular follow-up with a cardiologist and a neurologist is essential for monitoring the progression of the disease and adjusting treatment as necessary.

Prognosis[edit | edit source]

The prognosis for individuals with DCMA syndrome varies and depends on the severity of the cardiomyopathy and the extent of neurological involvement. Early diagnosis and management of heart and neurological symptoms can improve the quality of life for individuals with DCMA syndrome. However, the condition can be life-threatening, particularly if the cardiomyopathy leads to heart failure.