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Start free with EleplanX-linked progressive cerebellar ataxia
ORPHA:1175Disease
What it is
A rare X-linked cerebellar ataxia, characterized by a combination of upper and lower motor neuron signs, with an age of onset in the first or second decade, slow progression, and normal intelligence. Typical features of cerebellar dysfunction include gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, nystagmus, and hyperreflexia. Further phenotypic features are pes cavus, scoliosis, muscle atrophy, and peripheral sensory and motor nerve abnormalities.
Key facts
- Age of onset
- Childhood
- Inheritance
- X-linked recessive
- Classified as
- Disease
Signs and symptoms
Common30–79%
22- Axonal loss
- Cerebellar vermis atrophy
- Clumsiness
- Decreased/absent ankle reflexes
- Distal lower limb amyotrophy
- Dysdiadochokinesis
- Dysmetria
- EMG: neuropathic changes
- Frequent falls
- Hyperreflexia
- Intention tremor
- Limb ataxia
- Motor delay
- Nystagmus
- Pes cavus
- Progressive gait ataxia
- Saccadic smooth pursuit
- Scoliosis
- Sensorimotor neuropathy
- Spastic dysarthria
- Spinocerebellar tract degeneration
- Unsteady gait
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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