Living with Ataxia-pancytopenia syndrome
A rare genetic condition that affects balance and coordination and the blood-forming cells in the bone marrow.
Understanding Ataxia-pancytopenia syndrome
The age it begins, how severe it is, and how fast it worsens vary. Nerve problems include poor balance and coordination (ataxia), trouble judging distance, and involuntary eye movements, and they worsen over time. Low blood counts (pancytopenia) can cause tiredness, frequent infections, and bleeding. It is also linked to a higher chance of some blood cancers.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor balance and coordination (ataxia)
- Unsteady walking
- Involuntary rapid eye movements (nystagmus)
- Low red blood cells (anemia)
- Frequent respiratory infections
- Enlarged spleen
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SAMD9L are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Ataxia Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the SAMD9L gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: ataxia pancytopenia syndrome; atxpc; myelocerebellar disorder
Patient organizations
- National Ataxia FoundationAtaxia-pancytopenia syndrome · United States
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Perspectives from people navigating life with Ataxia-pancytopenia syndrome.
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