Ataxia-pancytopenia syndrome
MONDO:0008038A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
Also known as: ataxia-pancytopenia syndrome, myelocerebellar disorder, ATXPC
18 clinical trials for this condition and its sub-types, 0 tagged with Ataxia-pancytopenia syndrome itself.
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Robots as rehab coaches: a new approach to retraining coordination in ataxia
Disease control OngoingThis trial tests whether robot-assisted neurorehabilitation can improve coordination, balance, and walking in adults with ataxia, a condition that affects movement control. Participants will receive either robotic or standard rehabilitation, and researchers will measure changes i…
Sponsor: Somogy Megyei Kaposi Mór Teaching Hospital • Aim: Disease control
Last updated Jul 31, 2026 00:00 UTC
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Can a gentle brain zap help people with ataxia walk better?
Symptom relief OngoingThis study tests whether a non-invasive brain stimulation technique called transcranial direct current stimulation (tDCS) can improve movement in people with degenerative ataxia, a rare condition that damages the cerebellum and impairs balance and coordination. Sixteen participan…
Sponsor: University of Cagliari • Aim: Symptom relief
Last updated Jun 27, 2026 08:00 UTC