Transcranial sonography findings in spinocerebellar ataxia type 3 (Machado–Joseph disease): A cross-sectional study

2011 ◽  
Vol 504 (2) ◽  
pp. 98-101 ◽  
Author(s):  
José Luiz Pedroso ◽  
Edson Bor-Seng-Shu ◽  
Andre Carvalho Felício ◽  
Pedro Braga-Neto ◽  
Manoel Jacobsen Teixeira ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Cross Sectional Study ◽  
Transcranial Sonography ◽  
Spinocerebellar Ataxia Type ◽  
Sectional Study ◽  
Spinocerebellar Ataxia Type 3 ◽  
Cross Sectional ◽  
Machado Joseph Disease ◽  
Type 3

scholarly journals Non-ataxia signs in Brazilian individuals with spinocerebellar ataxia type 3

2021 ◽  
Vol 34 ◽  
Author(s):  
Camilla Polonini Martins ◽  
Mariana da Silva Salvino Klem Galvez ◽  
Yuri Rodrigues Luz de Araujo ◽  
Leda Maria Neumann Keim ◽  
Fernanda Baseggio Lopes Figueiredo ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Symptomatic Treatment ◽  
Cross Sectional Study ◽  
Hereditary Disease ◽  
Urinary Dysfunction ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Cross Sectional ◽  
Spearman Correlation Test ◽  
Type 3

Abstract Introduction: Spinocerebellar ataxia 3 (SCA3) is a hereditary disease associated with progressive cerebellar and extracerebellar degeneration. Although there is no effective therapy for SCA3, some of its symptoms can be relieved with symptomatic treatment. Identifying the presence of this signs in patients may contribute to their clinical management and thus improve their quality of life. Objective: To identify the presence and frequency of non-ataxia signs in a sample of Brazilian individuals with SCA3 and to investigate its association with severity and duration of the disease. Methods: This is a cross-sectional study. The inclusion criteria of this study were participants should be diagnosed with SCA3 and be between 18 and 70 years old. The exclusion criteria were participants with a score of less than 18 points on the Mini Mental State Examination (MMSE) and those with other neurological or orthopedic problems. Twenty-three participants were evaluated by the Inventory of Non-ataxia Signs (INAS) and the Scale for the Assessment and Rating of Ataxia (SARA). Results: The median score found for INAS was [median (min-max)] 3 (0-6) points and 10 (2-23) for SARA. Only one participant did not show non-ataxic signs. The most prevalent non-ataxic manifestations were areflexia, urinary dysfunction, hyperreflexia and spasticity. Spearman correlation test indicated a moderate and significant correlation between INAS and SARA scores (rho = 0.428, 95% CI = 0.39-0.704, p = 0.033). There was no association between INAS scores and the disease duration (rho = 0.003, 95% CI = -0.398-0.704, p = 0.393). Conclusion: Areflexia, urinary dysfunction, hyperreflexia and spasticity were the most prevalent non-ataxic signs. We identified a moderate correlation between the presence of non-ataxic signs and disease severity. This findings can help the professionals dealing with these patients.

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

2018 ◽  
Vol 12 (1) ◽  
pp. 41-49 ◽  
Author(s):  
Ligia Maria Perrucci Catai ◽  
Carlos Henrique Ferreira Camargo ◽  
Adriana Moro ◽  
Gustavo Ribas ◽  
Salmo Raskin ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Movement Disorders ◽  
Disease Onset ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Generalized Dystonia ◽  
Machado Joseph Disease ◽  
Sca3 Patient ◽  
Type 3

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.

scholarly journals Reconstructing the History of Machado-Joseph Disease

2020 ◽  
Vol 83 (1) ◽  
pp. 99-104
Author(s):  
Alex Tiburtino Meira ◽  
José Luiz Pedroso ◽  
François Boller ◽  
Gustavo Leite Franklin ◽  
Orlando Graziani Povoas Barsottini ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Hereditary Ataxia ◽  
Spinocerebellar Ataxia Type 3 ◽  
History Of ◽  
Machado Joseph Disease ◽  
Type 3

Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3, was originally described in members of the families of Machado, Thomas, and Joseph from São Miguel Island, Azores, Portugal, in 1972. The purpose of this article is to present previous descriptions of hereditary ataxia resembling the heterogeneous phenotypic intra-familiar presentation of MJD. We suggest that the condition would best be called dominant spino-pontine atrophy.

Sign in / Sign up

Export Citation Format

Share Document