Alpers disease

Alpers disease
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Alpers' disease, also known as Alpers-Huttenlocher syndrome, is a rare neurodegenerative disorder that primarily affects the central nervous system. It is characterized by seizures, developmental delay, and liver dysfunction.

Causes

Alpers' disease is caused by mutations in the POLG gene, which is responsible for encoding the DNA polymerase gamma enzyme. This enzyme is crucial for the replication and repair of mitochondrial DNA. Mutations in the POLG gene lead to mitochondrial dysfunction, which is the underlying cause of the symptoms observed in Alpers' disease.

Symptoms

The symptoms of Alpers' disease typically begin in infancy or early childhood. Common symptoms include:

• Seizures
• Developmental delay
• Liver dysfunction
• Neurological deterioration

As the disease progresses, affected individuals may experience liver failure and severe neurological impairment.

Diagnosis

Diagnosis of Alpers' disease involves a combination of clinical evaluation and genetic testing. Neurologists may suspect the disease based on the clinical presentation and family history. Genetic testing can confirm the presence of mutations in the POLG gene.

Treatment

There is currently no cure for Alpers' disease. Treatment is primarily supportive care aimed at managing symptoms and improving quality of life. Antiepileptic drugs may be used to control seizures, although they may not be effective in all cases. Liver transplantation may be considered in cases of severe liver failure, but the progressive neurological decline often limits the overall prognosis.

Prognosis

The prognosis for individuals with Alpers' disease is generally poor. The disease is progressive, and most affected individuals do not survive beyond childhood. The severity and progression of symptoms can vary, but the condition is ultimately life-limiting.

See also

• Mitochondrial disease
• Genetic disorder
• Neurological disorder

External links

• National Institute of Neurological Disorders and Stroke - Alpers' Disease