Alpers disease

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Alpers Disease

Alpers disease (pronounced: /ˈælpərz/), also known as Alpers-Huttenlocher syndrome or Alpers' progressive sclerosing poliodystrophy, is a rare, progressive neurodegenerative disorder that primarily affects children. The disease is named after the American neuropathologist, Howard Henry Alpers, who first described it in 1931.

Etymology

The term "Alpers disease" is derived from the name of its identifier, Howard Henry Alpers. The term "Huttenlocher" in "Alpers-Huttenlocher syndrome" is in honor of Peter Huttenlocher, a German-American neurologist who contributed significantly to the understanding of this disease.

Symptoms

The symptoms of Alpers disease include, but are not limited to, developmental delay, seizures, and liver disease. The disease is characterized by a lack of energy (lethargy), poor feeding, and vomiting. As the disease progresses, affected individuals may develop dementia, loss of motor skills, and vision problems.

Causes

Alpers disease is caused by mutations in the POLG gene. This gene provides instructions for making an enzyme that is found in mitochondria, the energy-producing centers within cells. Mutations in the POLG gene reduce or eliminate the activity of this enzyme, which disrupts mitochondrial function and leads to cell death.

Diagnosis

Diagnosis of Alpers disease is based on the presence of characteristic neurological and liver symptoms, a family history of the disease, and genetic testing confirming a mutation in the POLG gene.

Treatment

There is currently no cure for Alpers disease. Treatment is symptomatic and supportive, focusing on managing seizures and liver disease, and providing nutritional support.

Prognosis

The prognosis for individuals with Alpers disease is poor. Most individuals with Alpers disease do not survive past childhood, although some have lived into their teenage years with supportive care.

See Also

External links

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