Objective: To classify therapies of RMD into enzyme replacement therapy, specific dietary changes, avoidance or management of certain triggers, and  others

Background: Rare diseases (RD) collectively are very common and encompass more than 7000 different disorders, but the number continues to grow every year. Movement disorders constitute the hallmark feature of several RD and a significant proportion of these disorders are amenable to treatment. Although effective symptomatic treatment are available for many rare movement disorders (RMD), some are amenable to pathogenesis-targeted therapeutic strategies

Methods: Our study group performed a systematic literature review to identify treatable RMD for which evidence for effective treatment exists.

Results: We identified at least 33 treatable RMD affecting children and adults. Different targets for these treatable conditions include dietary intervention in 9/33 (i.e.abetalipoproteinemia); avoidance of triggers 8/33 (e.g. glutaric aciduria type 1), enzyme replacement or substrate reduction 2/33 (e.g. Gaucher disease, Niemann-Pick type C), vitamin supplementation 6/33 (e.g. biotinidase deficiency), dopamine replacement 6/33 (e.g. dopa-responsive disorders), copper depleting agents 2/33 (e.g., Wilson disease), replacement therapies 2/33 (e.g., chenodeoxycholic acid in cerebrotendinous xanthomatosis), compensatory  enzymatic activity 1/33 (e.g. Aromatic amino acid decarboxylase deficiency ) and ion channel modulation 2/33( e.g. Episodic ataxia type 2)

Conclusions: Increased awareness of treatable RMD through a systematic approach may facilitate the use of specific treatments capable of preventing, improving, or reversing neurological damage associated with this group of movement disorders.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/treatable-rare-movement-disorders/