Levodopa responsive-generalized dystonic spells and moaning in DNAJC6 related Juvenile Parkinson's disease.

Authors :: Mittal SO
Source :: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2020 Dec; Vol. 81, pp. 188-189. Date of Electronic Publication: 2020 Nov 05.
Publication Year :: 2020
Abstract: This is a case of young man who has severe generalized dystonic spells with moaning with severe parkinsonism, which improves with dopaminergic medications. Patient was found to be DNAJC6 related juvenile Parkinson's disease. This case adds to the phenotypic variability of the DNAJC6 juvenile Parkinson's disease as severe dystonic spells and moaning has not been reported previously. Early diagnosis and symptomatic treatment with dopaminergic medications helps significantly to improve the quality of life.<br /> (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Subjects :: Adolescent
Humans
Male
Dopamine Agents pharmacology
Dystonia drug therapy
Dystonia etiology
HSP40 Heat-Shock Proteins genetics
Levodopa pharmacology
Parkinson Disease complications
Parkinson Disease drug therapy
Parkinson Disease genetics
Parkinson Disease physiopathology

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