Sengers syndrome

Sengers syndrome is a rare mitochondrial disease that often presents with a combination of features. This condition is characterized by the presence of congenital cataracts, hypertrophic cardiomyopathy, and muscle weakness. In some cases, people with this condition experience lactic acidosis after exercise due to underlying mitochondrial dysfunction. This condition is sometimes referred to by several other names, including congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome. While the specific manifestations can vary, the combination of eye, heart, and muscle symptoms are key signs in people with Sengers syndrome.

People with Sengers syndrome often have cataracts from birth, a thickened heart muscle (hypertrophic cardiomyopathy), and muscle weakness. They may also develop lactic acidosis, especially after physical activity, which is a buildup of acid in the blood.

Sengers syndrome is caused by changes in the AGK gene, which is important for mitochondrial function. These genetic changes affect the way energy is produced in cells, leading to the symptoms seen in this condition. Inheritance and genetic factors play an important role, and a diagnosis may include genetic testing to confirm changes in the AGK gene.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.