Alpers syndrome
Alpers Syndrome
Alpers Syndrome (pronounced: AL-pers SIN-drome), also known as Alpers-Huttenlocher Syndrome or Alpers' Disease, is a rare, progressive neurodegenerative disorder that primarily affects children. The syndrome is named after the American neuropathologist, Howard H. Alpers, who first described the condition in 1931.
Etymology
The term "Alpers Syndrome" is derived from the name of the neuropathologist, Howard H. Alpers, who first described the condition. The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms" or "running together".
Definition
Alpers Syndrome is a progressive, neurodegenerative disorder characterized by the onset of seizures, loss of cognitive and motor skills, and liver disease. It is considered a mitochondrial disease as it is caused by mutations in the POLG gene, which is responsible for the production of an enzyme involved in the replication of mitochondrial DNA.
Symptoms
The symptoms of Alpers Syndrome typically begin in early childhood and may include seizures, developmental delay, hypotonia (low muscle tone), spasticity (stiffness and involuntary muscle spasms), and failure to thrive. As the disease progresses, affected individuals may develop liver disease, including liver failure, and may experience vision and hearing loss.
Diagnosis
Diagnosis of Alpers Syndrome is based on clinical evaluation, detailed patient history, and specialized tests such as genetic testing to identify mutations in the POLG gene. Neuroimaging, such as MRI, may also be used to detect characteristic changes in the brain.
Treatment
There is currently no cure for Alpers Syndrome. Treatment is symptomatic and supportive, and may include anticonvulsant medications to control seizures, physical therapy to manage spasticity and maintain mobility, and nutritional support.
Prognosis
The prognosis for individuals with Alpers Syndrome is generally poor, with most affected individuals not surviving past childhood. The rate of disease progression can vary, however, and some individuals may live into adolescence or early adulthood.
See Also
External links
- Medical encyclopedia article on Alpers syndrome
- Wikipedia's article - Alpers syndrome
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