Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of São Paulo, Brazil.

Autor: Machado DS; Department of Neurology, School of Medical Sciences - University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, Cidade Universitária 'Zeferino Vaz', Campinas, SP, 13083-887, Brazil., Viana CF; Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Pedroso JL; Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Barsottini OGP; Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Tomaselli PJ; Department of Neuroscience and Behavioural Sciences, School of Medicine - University of São Paulo (USP) of Ribeirão Preto, Ribeirão Preto, SP, Brazil., Marques W Jr; Department of Neuroscience and Behavioural Sciences, School of Medicine - University of São Paulo (USP) of Ribeirão Preto, Ribeirão Preto, SP, Brazil., Rezende TJR; Department of Neurology, School of Medical Sciences - University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, Cidade Universitária 'Zeferino Vaz', Campinas, SP, 13083-887, Brazil., Martinez ARM; Department of Neurology, School of Medical Sciences - University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, Cidade Universitária 'Zeferino Vaz', Campinas, SP, 13083-887, Brazil., França MC Jr; Department of Neurology, School of Medical Sciences - University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126, Cidade Universitária 'Zeferino Vaz', Campinas, SP, 13083-887, Brazil. mcfrancajr@uol.com.br.
Jazyk: angličtina
Zdroj: Cerebellum (London, England) [Cerebellum] 2024 Oct; Vol. 23 (5), pp. 1916-1922. Date of Electronic Publication: 2024 Mar 23.
DOI: 10.1007/s12311-024-01687-w
Abstrakt: Friedreich's Ataxia (FRDA) is the leading cause of ataxia worldwide, but data on epidemiology and diagnostic journey are scarce, particularly in Latin America. Herein we estimated the prevalence of FRDA in the most populous Brazilian state and characterized the diagnostic odyssey of the disease. We received anonymized data of patients with FRDA from advocacy groups and physicians. Prevalence was estimated dividing the number of patients by the population of the state as reported in the last census. Patients were invited to answer an online survey to describe clinical data and diagnostic journey of the disease. FRDA estimated prevalence was 0.367:100,000, with a slight predominance of women (58.2% vs 41.7%). One hundred and four patients answered the survey (mean age of 37.3 ± 13.8 years; 75.9% classical and 24.0% late onset). On average, 6.2 ± 4.1 physicians were visited before reaching the diagnosis. Mean diagnostic delay was 7.8 ± 6.7 years; no difference between classical and LOFA groups was found. Most of the patients reported unsteadiness and gait abnormalities as the first symptom. Neurologists and orthopedical surgeons were the main specialties first sought by patients. We found a prevalence of 0.36:100,000 for FRDA in the state of São Paulo, Brazil. The disease is characterized by remarkable diagnostic delay, with no relevant differences between classical and LOFA patients.
(© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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