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Two siblings with homocystinuria presenting with dystonia and parkinsonism
Author(s) -
Ekinci Burçak,
Apaydin Hulya,
Vural Melih,
Özekmekçi Sibel
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20062
Subject(s) - dystonia , chorea , homocystinuria , parkinsonism , movement disorders , pediatrics , medicine , neurological disorder , physical medicine and rehabilitation , psychiatry , central nervous system disease , chemistry , disease , amino acid , methionine , biochemistry
Movement disorders such as dystonia, chorea or tremor are rarely encountered in patients with homocystinuria. We present 2 siblings with laboratory‐confirmed homocystinuria, one with severe generalized dystonia and the other with mild parkinsonism. The movement disorders in our patients appeared in the second and first decades, respectively. © 2004 Movement Disorder Society