Distressing belching and neuroacanthocytosis

Mov Disord. 2004 Jul;19(7):856-9. doi: 10.1002/mds.20091.

Abstract

We report on an uncommon manifestation of molecularly proven neuroacanthocytosis in a 32-year-old man in whom dyspnea with desaturation while awake accompanied by continuous involuntary belching were the major consequences of the disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chorea / complications*
  • Chorea / diagnosis*
  • Chorea / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Diaphragm / physiopathology
  • Dilatation, Pathologic / physiopathology
  • Electromyography
  • Electrooculography
  • Eructation / complications*
  • Eructation / physiopathology
  • Gastrointestinal Tract / physiopathology
  • Humans
  • Male
  • Muscle, Skeletal / physiopathology
  • Point Mutation / genetics
  • Polysomnography
  • Proteins / genetics
  • Vesicular Transport Proteins

Substances

  • Proteins
  • VPS13A protein, human
  • Vesicular Transport Proteins