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.

Torsion dystonia

Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.


Total: 1

                       


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PMID (PMCID)
2368812
 MIXED_SAMPLE Child
X-linked recessive torsion dystonia in the Philippines.
Kupke KG, Lee LV, Viterbo GH, Arancillo J, Donlon T, Muller U.
Am J Med Genet. 1990;36(2):237-42.
Several secondary causes of torsion dystonia were excluded, including Wilson disease, aminoacidopathies, organic acidurias, oligosaccharidoses, and chronic hexosaminidase A and B deficiency.