Ignacio Rubio-Agusti and Miryam Carecchio contributed equally to this article.
Movement Disorders in Adult Patients With Classical Galactosemia
Version of Record online: 11 FEB 2013
Copyright © 2013 Movement Disorder Society
Volume 28, Issue 6, pages 804–810, June 2013
How to Cite
Rubio-Agusti, I., Carecchio, M., Bhatia, K. P., Kojovic, M., Parees, I., Chandrashekar, H. S., Footitt, E. J., Burke, D., Edwards, M. J., Lachmann, R. H.L. and Murphy, E. (2013), Movement Disorders in Adult Patients With Classical Galactosemia. Mov. Disord., 28: 804–810. doi: 10.1002/mds.25348
Funding agencies:This work was undertaken at UCLH/UCL, which received a proportion of funding from the Department of Health's National Institute of Health Research (NIHR) Biomedical Research Centers' funding scheme. Mark J. Edwards is supported by a grant from the NIHR.
Relevant conflicts of interest/financial disclosures: Nothing to report.
- Issue online: 25 JUN 2013
- Version of Record online: 11 FEB 2013
- Manuscript Accepted: 9 DEC 2012
- Manuscript Revised: 27 NOV 2012
- Manuscript Received: 13 JUL 2012
- inherited metabolic disease;
- mirror movements
Classical galactosemia is an autosomal recessive inborn error of metabolism leading to toxic accumulation of galactose and derived metabolites. It presents with acute systemic complications in the newborn. Galactose restriction resolves these symptoms, but long-term complications, such as premature ovarian failure and neurological problems including motor dysfunction, may occur despite adequate treatment. The objective of the current study was to determine the frequency and phenotype of motor problems in adult patients with classical galactosemia. In this cross-sectional study, adult patients with a biochemically confirmed diagnosis of galactosemia attending our clinic were assessed with an interview and neurological examination and their notes retrospectively reviewed. Patients were classified according to the presence/absence of motor dysfunction on examination. Patients with motor dysfunction were further categorized according to the presence/absence of reported motor symptoms. Forty-seven patients were included. Thirty-one patients showed evidence of motor dysfunction including: tremor (23 patients), dystonia (23 patients), cerebellar signs (6 patients), and pyramidal signs (4 patients). Tremor and dystonia were often combined (16 patients). Thirteen patients reported motor symptoms, with 8 describing progressive worsening. Symptomatic treatment was effective in 4 of 5 patients. Nonmotor neurological features (cognitive, psychiatric, and speech disorders) and premature ovarian failure were more frequent in patients with motor dysfunction. Motor dysfunction is a common complication of classical galactosemia, with tremor and dystonia the most frequent findings. Up to one third of patients report motor symptoms and may benefit from appropriate treatment. Progressive worsening is not uncommon and may suggest ongoing brain damage in a subset of patients. © 2013 Movement Disorder Society