Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.

Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.

J Clin Neurosci. 2018 Feb 08;:

Authors: Kübler D, Borngräber F, Lohmann K, Kühn AA

Abstract
We present a case of myoclonus-dystonia syndrome illustrated by three videos in which we found a novel SGCE mutation. As the patient described here was suffering from predominant psychiatric comorbidities it took more than 40 years from the first manifestation of the disease until the diagnosis. Having detected the genetically proven cause for his motor and non-motor symptoms was an enormous relief to our patient. We want to share this instructive case in order to prompt neurologists and psychiatrists to look closely at both movement disorders and neuropsychiatric signs in order to diagnose and treat patients to the latest standard.

PMID: 29429788 [PubMed - as supplied by publisher]

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