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.
Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.
Cerebellum. 2024 Oct;23(5):1916-1922. doi: 10.1007/s12311-024-01687-w. Epub 2024 Mar 23.
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.
弗里德赖希共济失调（FRDA）是全球共济失调的主要原因，但有关其流行病学和诊断过程的数据很少，尤其是在拉丁美洲。在此，我们估计了巴西人口最多的州 FRDA 的患病率，并描述了该疾病的诊断历程。我们从宣传团体和医生那里收到了 FRDA 患者的匿名数据。患病率通过将患者人数除以最后一次人口普查报告的州人口来估算。患者被邀请回答在线调查，以描述疾病的临床数据和诊断历程。FRDA 的估计患病率为 0.367:100,000，女性略占优势（58.2%对 41.7%）。有 104 名患者回答了调查（平均年龄 37.3±13.8 岁；75.9%为经典型，24.0%为迟发型）。平均需要看 6.2±4.1 位医生才能确诊。平均诊断延迟为 7.8±6.7 年；经典型和迟发型 FRDA 患者之间没有差异。大多数患者报告首先出现不稳定和步态异常。神经病学家和矫形外科医生是患者首先寻求的主要专业。我们发现巴西圣保罗州 FRDA 的患病率为 0.36:100,000。该疾病的特点是诊断延迟显著，经典型和迟发型 FRDA 患者之间没有明显差异。
