Sengers–Hamel–Otten syndrome

Sengers-Hamel-Otten Syndrome is a rare genetic disorder characterized by a combination of symptoms, including congenital cataracts, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis. This syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition.

Symptoms and Diagnosis

The primary symptoms of Sengers-Hamel-Otten Syndrome include:

• Congenital Cataracts: Clouding of the lens of the eye present from birth, leading to impaired vision.
• Hypertrophic Cardiomyopathy: A condition where the heart muscle becomes abnormally thick, making it harder for the heart to pump blood.
• Mitochondrial Myopathy: Weakness and dysfunction of the muscles due to problems with the mitochondria, the energy-producing structures within cells.
• Lactic Acidosis: A buildup of lactic acid in the body, which can lead to symptoms such as nausea, vomiting, and rapid breathing.

Diagnosis of Sengers-Hamel-Otten Syndrome typically involves a combination of clinical evaluation, family history, and genetic testing to identify mutations in the relevant gene.

Genetics

The syndrome is caused by mutations in a gene that is essential for normal mitochondrial function. Mitochondria are responsible for producing the energy that cells need to function properly. Mutations in this gene disrupt the normal production of energy within cells, leading to the symptoms associated with the syndrome.

Treatment

There is no cure for Sengers-Hamel-Otten Syndrome, and treatment is focused on managing symptoms and improving quality of life. This may include:

• Surgery to remove cataracts and improve vision.
• Medications and lifestyle changes to manage cardiomyopathy.
• Physical therapy to strengthen muscles and improve mobility.
• Nutritional support to address dietary needs and manage lactic acidosis.

Prognosis

The prognosis for individuals with Sengers-Hamel-Otten Syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. Early diagnosis and intervention can improve outcomes for some individuals.

See Also

• Genetic disorder
• Mitochondrial disease
• Cardiomyopathy
• Cataract

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