Introduction
Group of hereditary ataxias characterized by degenerative changes in the cerebellum, and sometimes in the spinal cord.
- Autosomal dominant inheritance
Clinical features
Clinical hallmark is loss of balance & coordination accompanied by slurred speech; onset is most often in adult life.
- Ataxia
- Uncoordinated walk
- Poor hand-eye coordination
- Dysarthria (abnormal speech)
- Involuntary eye movement
- Vision problems
- Difficulty processing, learning, and remembering information
Diagnosis
Genetic testing:
Management
No known treatment.
Supportive management:
- Physiotherapy
- Occupational therapy
- Speech therapy
Summary:
