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Hereditary spastic paraplegia 9A

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Description

Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Genetic anticipation

VARIANTS

108

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Genes

External Links

  • OMIM

    601162

  • Orphanet

    447753

  • HPO
  • Medgen

    C1832669

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