Ataxia-pancytopenia syndrome

Ataxia-pancytopenia syndrome is a rare, genetic, neurological disorder characterized by early-onset cerebellar ataxia, associated with hematological abnormalities, including pancytopenia and myelodysplastic syndrome, and a predisposition to developing myeloid leukemia.

Symptoms

The symptoms of Ataxia-pancytopenia syndrome include:

• Cerebellar ataxia
• Pancytopenia
• Myelodysplastic syndrome
• Predisposition to developing myeloid leukemia

Causes

Ataxia-pancytopenia syndrome is caused by mutations in the SAMD9L gene. This gene provides instructions for making a protein that is involved in controlling cell growth and division.

Diagnosis

Diagnosis of Ataxia-pancytopenia syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

Treatment of Ataxia-pancytopenia syndrome is focused on managing the symptoms. This may include physical therapy for ataxia and treatment for hematological abnormalities.

Prognosis

The prognosis for individuals with Ataxia-pancytopenia syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications of the disorder.

See also

• Ataxia
• Pancytopenia
• Myelodysplastic syndrome
• Myeloid leukemia

Ataxia-pancytopenia syndrome Resources
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