Ataxia-pancytopenia syndrome

Ataxia-pancytopenia syndrome
Synonyms	Ataxia-pancytopenia syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Ataxia, Pancytopenia, Cerebellar ataxia
Complications	Infections, Bleeding disorders
Onset	Childhood
Duration	Chronic
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, Blood test, Bone marrow biopsy
Differential diagnosis	Ataxia-telangiectasia, Fanconi anemia
Prevention	N/A
Treatment	Supportive care, Blood transfusion, Bone marrow transplant
Medication	N/A
Prognosis	Variable
Frequency	Rare
Deaths	N/A

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