Sengers syndrome

Autosomal recessive - en

Sengers syndrome is a rare genetic disorder characterized by a combination of congenital cataracts, cardiomyopathy, and mitochondrial myopathy. It is inherited in an autosomal recessive manner and is caused by mutations in the AGK gene.

Presentation

Individuals with Sengers syndrome typically present with congenital cataracts at birth, which can lead to visual impairment if not treated. Cardiomyopathy is another hallmark of the syndrome, often manifesting as hypertrophic cardiomyopathy or dilated cardiomyopathy. Mitochondrial myopathy results in muscle weakness and exercise intolerance. Other features may include growth retardation, lactic acidosis, and hypotonia.

Genetics

Sengers syndrome is caused by mutations in the AGK gene, which encodes the enzyme acylglycerol kinase. This enzyme is involved in the metabolism of mitochondria, the energy-producing structures within cells. The disorder follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of Sengers syndrome is based on clinical features, family history, and genetic testing. Molecular genetic testing can confirm the presence of mutations in the AGK gene. Additional diagnostic tests may include echocardiography to assess cardiomyopathy, muscle biopsy to evaluate mitochondrial myopathy, and ophthalmologic examination to detect congenital cataracts.

Management

There is no cure for Sengers syndrome, and treatment is primarily supportive. Management of congenital cataracts may involve surgical removal to improve vision. Cardiomyopathy is managed with medications and, in severe cases, may require heart transplantation. Physical therapy and occupational therapy can help manage muscle weakness and improve quality of life.

Prognosis

The prognosis for individuals with Sengers syndrome varies depending on the severity of the symptoms. Early diagnosis and appropriate management can improve outcomes, but the condition can be life-threatening, particularly due to complications related to cardiomyopathy.

Related Pages

• Genetic disorder
• Congenital cataracts
• Cardiomyopathy
• Mitochondrial myopathy
• Autosomal recessive
• AGK gene