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Spinocerebellar ataxia type 34

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Description

Spinocerebellar ataxia-34 is an autosomal dominant disorder characterized by slowly progressive cerebellar ataxia. The age at onset is usually during the young adult years, and most patients remain ambulatory until late in life. One family with SCA34 also had onset of erythema and hyperkeratosis in early childhood (Cadieux-Dion et al., 2014), whereas other families have additional neurologic signs, including ocular movement disturbances and pyramidal tract signs (Ozaki et al., 2015). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

7

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Genes

External Links

  • OMIM

    133190

  • Orphanet

    1955

  • HPO
  • Medgen

    C1851481

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