| Literature DB >> 3156966 |
Abstract
An Australian family group is described where at least twenty members have inherited torsion dystonia and two siblings with an affected mother have similar clinical manifestations, but have also the biochemical and pathological changes found in Wilson's disease. Whispering dysphonia was the commonest presenting symptom, and a diagnosis of hysteria was invariably made if the family history was not known. This group emphasises the enormously varied ways in which torsion dystonia may be manifested in one family, and raises the possibility of a disturbance in copper transport in diseases of the basal ganglia other than Wilson's disease.Entities:
Mesh:
Year: 1985 PMID: 3156966 PMCID: PMC1028253 DOI: 10.1136/jnnp.48.3.218
Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN: 0022-3050 Impact factor: 10.154