Variant ataxia-telangiectasia with prominent camptocormia

Parkinsonism Relat Disord. 2019 May:62:253-255. doi: 10.1016/j.parkreldis.2018.12.017. Epub 2018 Dec 17.
No abstract available

Keywords: ATM; Generalized dystonia; Sensory trick; Variant ataxia-telangiectasia.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ataxia Telangiectasia / complications
  • Ataxia Telangiectasia / diagnosis*
  • Ataxia Telangiectasia / genetics*
  • Female
  • Genetic Variation / genetics*
  • Humans
  • Muscular Atrophy, Spinal / complications
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / genetics*
  • Spinal Curvatures / complications
  • Spinal Curvatures / diagnosis*
  • Spinal Curvatures / genetics*

Supplementary concepts

  • Ataxia-Telangiectasia Variant
  • Camptocormia