Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?

Am J Med Genet. 1996 Mar 1;62(1):54-7. doi: 10.1002/(SICI)1096-8628(19960301)62:1<54::AID-AJMG11>3.0.CO;2-U.

Abstract

We report on 2 sibs with consanguineous parents, and an identical progressive extrapyramidal movement disorder with onset in adolescence and associated with progressive alopecia and primary hypogonadism. To our knowledge, this syndrome has not been reported, and probably represents a newly recognized autosomal recessive condition.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alopecia* / genetics
  • Alopecia* / physiopathology
  • Basal Ganglia Diseases* / genetics
  • Basal Ganglia Diseases* / physiopathology
  • Consanguinity
  • Disease Progression
  • Female
  • Follow-Up Studies
  • Humans
  • Hypogonadism* / genetics
  • Hypogonadism* / physiopathology
  • Male
  • Middle Aged
  • Syndrome