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3-Methylglutaconic aciduria type 3

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Description

Costeff syndrome is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive decrease in visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have chorea, often severe enough to restrict ambulation. Some are confined to a wheelchair from an early age. Although most individuals develop spastic paraparesis, mild ataxia, and occasional mild cognitive deficit in their second decade, the course of the disease is relatively stable.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

251

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Genes

External Links

  • OMIM

    258501

  • Orphanet

    67047

  • HPO
  • Medgen

    C0574084

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