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Related Experiment Videos

SCA 6 with Writer's Cramp: The Phenotype Expanded.

Diana Angelika Olszewska1, Richard Walsh2, Tim Lynch1

  • 1Department of Neurology at the Dublin Neurological Institute Mater Misericordiae University Hospital Dublin Ireland.

Movement Disorders Clinical Practice
|February 5, 2019
PubMed
Summary

Spinocerebellar ataxia type 6 (SCA6) can present with writer's cramp and ataxia. This study details the largest family documented with SCA6, highlighting its complex movement disorder presentation.

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Area of Science:

  • Neurology
  • Genetics

Background:

  • Spinocerebellar ataxia type 6 (SCA6) typically manifests as a pure cerebellar syndrome.
  • Previous reports of SCA6 with dystonia are rare, with only a few cases of writer's cramp or shoulder girdle/hand dystonia documented.

Observation:

  • This study describes the largest family identified with Spinocerebellar ataxia type 6 (SCA6) presenting with writer's cramp.
  • The proband developed dysarthria, ataxia, and writer's cramp by age 37. Affected family members exhibited similar or pure ataxia symptoms.

Findings:

  • The family exhibits a complex movement disorder, with multiple members presenting with both ataxia and writer's cramp.
  • This observation expands the known clinical spectrum of Spinocerebellar ataxia type 6 (SCA6).

Implications:

Keywords:
SCA6spinocerebellar ataxiawriter's cramp

Related Experiment Videos

  • The findings underscore the importance of considering Spinocerebellar ataxia type 6 (SCA6) in patients with concurrent ataxia and writer's cramp.
  • This case series supports the involvement of the cerebellum in the pathophysiology of dystonia within the context of SCA6.