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

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.

Oromandibular Dystonia – A Systematic Review

“…OMD has been described in various Spinocerebellar ataxias including SCA1,[ 85 ] SCA2,[ 86 ] SCA3,[ 87 ] SCA8,[ 88 ] SCA12[ 89 ] and SCA36. [ 90 ] OMD may occur during the course of the illness, or rarely, can be the presenting feature.…”

Establish a Nomogram to Predict Falls in Spinocerebellar Ataxia Type 3

“…Dystonia is one of the most common extrapyramidal manifestations in SCA3. Previous studies have reported a prevalence of dystonia between 3.7 and 33.3% in SCA3 ( 16 , 17 ). Dystonia and ataxia may share some overlapping pathologies, such as synaptic transmission and neurodevelopment ( 18 ).…”

Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation

“…12,13 Features of childhood-onset SCA3 are similar to the adult onset form, but appear to be more rapidly progressive. 11 A range of movement disorders, including dystonia, has been reported in SCA3 and some of the other inherited ataxias, 21 leading to support for the hypothesis that the cerebellum might play a role in the generation of dystonia. 32 Dystonia has been reported as a feature in childhood-onset SCAs, 11,12 but to our knowledge, tongue dystonia in SCA3 has never been documented.…”