RESEARCH ARTICLE


Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?



Ligia Maria Perrucci Catai1, 2, Carlos Henrique Ferreira Camargo3, *, Adriana Moro4, Gustavo Ribas2, Salmo Raskin5, 6, Hélio Afonso Ghizoni Teive2
1 Botulinum Toxin Unit, Hospital Universitário, State University of Ponta Grossa, Ponta Grossa, Brazil
2 Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil
3 Neurology Service, Hospital Universitário, State University of Ponta Grossa, Ponta Grossa, Brazil
4 Paraná Association for Parkinson’s Disease, Curitiba, Brazil
5 Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil
6 Genetika-Centro de Aconselhamento e Laboratório de Genética, Curitiba, Brazil


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© 2018 Catai et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at the Neurology Service, Hospital Universitário, State University of Ponta Grossa, Al Nabuco de Araújo, 601 - Uvaranas 84031-510, Ponta Grossa, Brazil; Tel: +5542-30262627; E-mail: chcamargo@uol.com.br


Abstract

Background:

Spinocerebellar Ataxia type 3 (SCA3) or Machado-Joseph Disease (MJD) is characterized by cerebellar, central and peripheral symptoms, including movement disorders. Dystonia can be classified as hereditary and neurodegenerative when present in SCA3.

Objective:

The objective of this study was to evaluate the dystonia characteristics in patients with MJD.

Method:

We identified all SCA3 patients with dystonia from the SCA3 HC-UFPR database, between December 2015 and December 2016.Their medical records were reviewed to verify the diagnosis of dystonia and obtain demographic and clinical data. Standardized evaluation was carried out through the classification of Movement Disorders Society of 2013 and Burke Fahn-Marsden scale (BFM).

Results:

Amongst the presenting some common characteristics, 381 patients with SCA3, 14 (3.7%) subjects presented dystonia: 5 blepharospasm, 1 cervical dystonia, 3 oromandibular, 3 multifocal and 2 generalized dystonia. Regarding dystonia's subtypes, 71.4% had SCA3 subtype I and 28.6% SCA3 subtype II. The average age of the disease onset was 40±10.7 years; the SCA3 disease duration was 11.86± 6.13 years; the CAG repeat lengths ranged from 75 to 78, and the BFM scores ranged from 1.0 to 40. There was no correlation between the dystonia severity and CAG repeat lengths or the SCA3 clinical evolution.

Conclusion:

Dystonia in SCA3 is frequent and displays highly variable clinical profiles and severity grades. Dystonia is therefore a present symptom in SCA3, which may precede the SCA3 classic symptoms. Dystonia diagnosis is yet to be properly recognized within SCA3 patient.

Keywords: Dystonia, Machado-Joseph disease, Spinocerebellar ataxias, Genetic epidemiology, Movement disorders.