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[edit | edit source]
The symptoms of Ataxia-pancytopenia syndrome include:
- Cerebellar ataxia
- Pancytopenia
- Myelodysplastic syndrome
- Predisposition to developing myeloid leukemia
Causes[edit | edit source]
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[edit | edit source]
Diagnosis of Ataxia-pancytopenia syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
Treatment of Ataxia-pancytopenia syndrome is focused on managing the symptoms. This may include physical therapy for ataxia and treatment for hematological abnormalities.
Prognosis[edit | edit source]
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[edit | edit source]
Ataxia-pancytopenia syndrome Resources | ||
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Contributors: Prab R. Tumpati, MD