Movement Disorders in Adult Patients With Classical Galactosemia

Authors

  • Ignacio Rubio-Agusti MD,

    1. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom
    2. Sobell Department for Movement Disorders and Clinical Neuroscience, Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom
    3. Movement Disorders Unit, Department of Neurology, Hospital Universtiari La Fe, Valencia, Spain
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    • Ignacio Rubio-Agusti and Miryam Carecchio contributed equally to this article.

  • Miryam Carecchio MD,

    1. Sobell Department for Movement Disorders and Clinical Neuroscience, Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom
    2. Department of Neurology, Amedeo Avogadro University, Novara, Italy
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    • Ignacio Rubio-Agusti and Miryam Carecchio contributed equally to this article.

  • Kailash P. Bhatia MRCP, FRCP,

    1. Sobell Department for Movement Disorders and Clinical Neuroscience, Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom
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  • Maja Kojovic MD,

    1. Sobell Department for Movement Disorders and Clinical Neuroscience, Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom
    2. Department of Neurology, University of Ljubljana, Ljubljana, Slovenia
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  • Isabel Parees MD,

    1. Sobell Department for Movement Disorders and Clinical Neuroscience, Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom
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  • Hoskote S. Chandrashekar MD,

    1. Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, United Kingdom
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  • Emma J. Footitt MRCPCH,

    1. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, Great Ormond Street Hospital, London, United Kingdom
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  • Derek Burke MSc,

    1. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, Great Ormond Street Hospital, London, United Kingdom
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  • Mark J. Edwards MRCP, PhD,

    1. Sobell Department for Movement Disorders and Clinical Neuroscience, Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom
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  • Robin H.L. Lachmann MRCP, PhD,

    1. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom
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  • Elaine Murphy MRCP, FRCPath

    Corresponding author
    1. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom
    • Correspondence to: Dr. Elaine Murphy, Charles Dent Metabolic Unit, Internal Mailbox 92, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; elaine.murphy@uclh.nhs.uk

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  • 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.

ABSTRACT

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

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