Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia.

Chun Seng Phua, Kishore Raj Kumar, Stanley Levy

Journal: Journal of the neurological sciences 2021;419():117167

PMID: 33039633

Full Text on Elsevier Science View on PubMed

Abstract

Neurometabolic causes of dystonia are heterogenous and can be challenging to diagnose, yet many of these disorders are potentially treatable. The first step in the workup is to clinically phenotype the underlying condition, followed by ordering selected diagnostic tests based on the clinician's judgement and clinical suspicion. In this review, we highlight the diagnostic clues to various disorders, including lysosomal storage diseases, mitochondrial cytopathies, metal storage disorders, organic acidurias, disorders in carbohydrate metabolism, neurotransmitter diseases and vitamin and cofactor deficiencies. We discuss key diagnostic clues to the presence of these conditions, as well as currently available treatments. We highlight that recognition and characterization of these secondary causes of dystonia facilitate their management, including possible treatment of the underlying neurometabolic disorder.

Address: Department of Neurology, Alfred Hospital, Melbourne, VIC 3004, Australia; Monash University, Department of Neuroscience, VIC 3004, Australia. Electronic address: [email protected].; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia; Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Department of Neurology, Campbelltown Hospital, NSW 2560, Australia; University of Western Sydney, School of Medicine, NSW 2560, Australia.

DOI: 10.1016/j.jns.2020.117167

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MeSH Terms: Dystonia, Dystonic Disorders, Humans, Metabolic Diseases