Spinocerebellar ataxia (SCA)

Spinocerebellar ataxia (SCA)

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:

Flowchart of molecular genetic diagnosis of SCAs. | Klockgether, T., Mariotti, C., & Paulson, H. L. (2019). Spinocerebellar ataxia. Nature Reviews Disease Primers, 5(1), 24. https://doi.org/10.1038/s41572-019-0074-3

Management

No known treatment.

Supportive management:

  • Physiotherapy
  • Occupational therapy
  • Speech therapy

Summary:

Klockgether, T., Mariotti, C., & Paulson, H. L. (2019). Spinocerebellar ataxia. Nature Reviews Disease Primers, 5(1), 24. https://doi.org/10.1038/s41572-019-0074-3

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