Wilson disease

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Dystonia

An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.


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(per page)
PMID (PMCID)
22261259
 MIXED_SAMPLE
[Diagnosis and care of Wilson disease with neurological revelation].
Wagner S, Brunet AS, Bost M, Lachaux A, Broussolle E, Des Portes V, Lion-Francois L.
Arch Pediatr. 2012;19(3):271-6.
Neurologic symptoms are present in 35% of the patients with Wilson disease such as dystonia, extrapyramidal syndrome, dysarthria, dysphagia, and psychiatric symptoms.
12555942
 MIXED_SAMPLE Infant, Newborn
Niemann-Pick disease type C in adults.
Imrie J, Vijayaraghaven S, Whitehouse C, Harris S, Heptinstall L, Church H, Cooper A, Besley GT, Wraith JE.
J Inherit Metab Dis. 2002;25(6):491-500.
The dystonia with preserved intellectual functioning can be mistaken for other basal ganglia disorders such as Wilson disease.