Dystonia in the Woodhouse Sakati syndrome: A new family and literature review

Mov Disord. 2008 Mar 15;23(4):592-6. doi: 10.1002/mds.21886.

Abstract

Woodhouse Sakati syndrome is a rare autosomal recessive neuroendocrine disorder characterized by the combination of alopecia, hypogonadism, diabetes mellitus, mental retardation, sensory neural deafness and extrapyramidal features. Movement disorders mainly consist of dystonia and chorea of the limbs with onset in adolescence. Facial muscles are usually spared, but dysarthria is common. Pyramidal features and peripheral abnormalities are inconsistent features. Most of the reported families are from the Middle Eastern countries although rarely Caucasian cases have been described. Here we present clinical details of two affected siblings from a new Middle East family and draw attention of movement disorder specialists to this entity. We summarize findings from pervious cases with particular focus on neurological and movement disorder features.

Publication types

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

MeSH terms

  • Adult
  • Alopecia / complications
  • Basal Ganglia Diseases / complications
  • Brain / pathology
  • Diabetes Complications / complications
  • Dystonia / complications
  • Dystonia / genetics*
  • Dystonia / physiopathology*
  • Hearing Loss, Sensorineural / complications
  • Humans
  • Hypogonadism / complications
  • Intellectual Disability / complications
  • Magnetic Resonance Imaging
  • Male
  • Neurosecretory Systems / pathology
  • Neurosecretory Systems / physiopathology*
  • Pedigree
  • Syndrome