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Spinocerebellar ataxia 43

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Description

Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

6

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Genes

External Links

  • OMIM

    617018

  • Orphanet

    497764

  • HPO
  • Medgen

    C4310763

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