[Movement disorders in miscellaneous disorders--inherited metabolic diseases]

Nihon Rinsho. 1993 Nov;51(11):2919-23.
[Article in Japanese]

Abstract

A variety of inheritable metabolic disorders produce movement disorders. A lists of conditions associated with tremor, athetosis, chorea, dystonia and myoclonus are presented as a guide for the differential diagnosis of such abnormal involuntary movements. The list includes aminoacidopathies, lipidoses, mucopolysaccharidoses, mucolipidoses, organic acidemias, mitochondrial cytopathies and disorders of carbohydrate, purine, and metal metabolism. Clinical, pathological and biochemical features of movement disorders of three typical examples, Wilson's disease, Lesch-Nyhan syndrome and glutaric acidemia type 1, are described.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Diagnosis, Differential
  • Hepatolenticular Degeneration / complications
  • Hepatolenticular Degeneration / physiopathology
  • Humans
  • Lesch-Nyhan Syndrome / complications
  • Lesch-Nyhan Syndrome / physiopathology
  • Metabolism, Inborn Errors / complications*
  • Movement Disorders / diagnosis
  • Movement Disorders / etiology*