Michele Michelin Beckerq , Juliana Gurgel-Giannetti , Alexandra Prufer de Queiroz Campos Araujo , Marcela Câmara Machado Costa , Têmis Maria Félix , Cláudia Fernandes Lorea , Adriana Banzzatto Ortega , Michelle Silva Zeny , Thayne Woycinck Kowalski , Pablo Brea Winckler , Leonardo Simão Medeiros , Clara Catharino Pinhati , Ana Carolina Monteiro Lessa de Moura , Jonas Alex Morales Saute , Flávia Nardes
{"title":"杜氏肌营养不良症的晚期诊断仍然是现实吗?","authors":"Michele Michelin Beckerq , Juliana Gurgel-Giannetti , Alexandra Prufer de Queiroz Campos Araujo , Marcela Câmara Machado Costa , Têmis Maria Félix , Cláudia Fernandes Lorea , Adriana Banzzatto Ortega , Michelle Silva Zeny , Thayne Woycinck Kowalski , Pablo Brea Winckler , Leonardo Simão Medeiros , Clara Catharino Pinhati , Ana Carolina Monteiro Lessa de Moura , Jonas Alex Morales Saute , Flávia Nardes","doi":"10.1016/j.ejpn.2025.05.004","DOIUrl":null,"url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is a progressive X-linked recessive neuromuscular disorder caused by pathogenic variants in the <em>DMD</em> gene manifesting in early childhood with progressive muscle weakness. First symptoms of muscle weakness usually appear around age of three, however, other signs of the disease like muscle hypertrophy, poor motor skills and social, language and motor delay can be detected earlier. Significant delays in the diagnostic process for DMD have been reported in many countries, with the diagnosis generally being made around five years. A collaborative historical cohort study was conducted to identify the age at diagnosis of DMD in five neuromuscular centers in Brazil, covering cases diagnosed between January 2019 and March 2024. In addition to data from the centers, data on age at diagnosis were obtained from The Brazilian National Network for Rare Diseases (RARAS). The final analytic cohort included 173 DMD individuals. The mean age at which patients were diagnosed with probable DMD based on clinical suspicion was 5.7 (±2.7) years, with diagnostic confirmation by genetic testing/muscle biopsy at 6.9 (±4.0) years, with medians of 6.0 and 6.8 years, respectively. The mean age at which parents noticed symptoms was 3.4 (±1.9) years with a median of 3.0 years. The most frequently observed initial symptoms by parents included frequent falls (35.5 %), gait abnormalities (31.4 %), difficulties in stair climbing (17.2 %), developmental delay (13.6 %), and difficulties in rising from the floor (8.9 %). The presence of co-occurring neurocognitive conditions was associated with a delay of 1.12 years (p = 0.008) in the median age at suspected diagnosis and 1.0 years in the median age at diagnosis confirmation (p = 0,022). These results suggest that while there have been improvements in the age of diagnosis of DMD in Brazil in recent decades, diagnosis still occurs later than ideal and then what has been achieved in high-income countries.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Pages 35-40"},"PeriodicalIF":2.3000,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Is late diagnosis of Duchenne muscular dystrophy still a reality?\",\"authors\":\"Michele Michelin Beckerq , Juliana Gurgel-Giannetti , Alexandra Prufer de Queiroz Campos Araujo , Marcela Câmara Machado Costa , Têmis Maria Félix , Cláudia Fernandes Lorea , Adriana Banzzatto Ortega , Michelle Silva Zeny , Thayne Woycinck Kowalski , Pablo Brea Winckler , Leonardo Simão Medeiros , Clara Catharino Pinhati , Ana Carolina Monteiro Lessa de Moura , Jonas Alex Morales Saute , Flávia Nardes\",\"doi\":\"10.1016/j.ejpn.2025.05.004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Duchenne muscular dystrophy (DMD) is a progressive X-linked recessive neuromuscular disorder caused by pathogenic variants in the <em>DMD</em> gene manifesting in early childhood with progressive muscle weakness. First symptoms of muscle weakness usually appear around age of three, however, other signs of the disease like muscle hypertrophy, poor motor skills and social, language and motor delay can be detected earlier. Significant delays in the diagnostic process for DMD have been reported in many countries, with the diagnosis generally being made around five years. A collaborative historical cohort study was conducted to identify the age at diagnosis of DMD in five neuromuscular centers in Brazil, covering cases diagnosed between January 2019 and March 2024. In addition to data from the centers, data on age at diagnosis were obtained from The Brazilian National Network for Rare Diseases (RARAS). The final analytic cohort included 173 DMD individuals. The mean age at which patients were diagnosed with probable DMD based on clinical suspicion was 5.7 (±2.7) years, with diagnostic confirmation by genetic testing/muscle biopsy at 6.9 (±4.0) years, with medians of 6.0 and 6.8 years, respectively. The mean age at which parents noticed symptoms was 3.4 (±1.9) years with a median of 3.0 years. The most frequently observed initial symptoms by parents included frequent falls (35.5 %), gait abnormalities (31.4 %), difficulties in stair climbing (17.2 %), developmental delay (13.6 %), and difficulties in rising from the floor (8.9 %). The presence of co-occurring neurocognitive conditions was associated with a delay of 1.12 years (p = 0.008) in the median age at suspected diagnosis and 1.0 years in the median age at diagnosis confirmation (p = 0,022). These results suggest that while there have been improvements in the age of diagnosis of DMD in Brazil in recent decades, diagnosis still occurs later than ideal and then what has been achieved in high-income countries.</div></div>\",\"PeriodicalId\":50481,\"journal\":{\"name\":\"European Journal of Paediatric Neurology\",\"volume\":\"57 \",\"pages\":\"Pages 35-40\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2025-05-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Journal of Paediatric Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1090379825000819\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Paediatric Neurology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1090379825000819","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Is late diagnosis of Duchenne muscular dystrophy still a reality?
Duchenne muscular dystrophy (DMD) is a progressive X-linked recessive neuromuscular disorder caused by pathogenic variants in the DMD gene manifesting in early childhood with progressive muscle weakness. First symptoms of muscle weakness usually appear around age of three, however, other signs of the disease like muscle hypertrophy, poor motor skills and social, language and motor delay can be detected earlier. Significant delays in the diagnostic process for DMD have been reported in many countries, with the diagnosis generally being made around five years. A collaborative historical cohort study was conducted to identify the age at diagnosis of DMD in five neuromuscular centers in Brazil, covering cases diagnosed between January 2019 and March 2024. In addition to data from the centers, data on age at diagnosis were obtained from The Brazilian National Network for Rare Diseases (RARAS). The final analytic cohort included 173 DMD individuals. The mean age at which patients were diagnosed with probable DMD based on clinical suspicion was 5.7 (±2.7) years, with diagnostic confirmation by genetic testing/muscle biopsy at 6.9 (±4.0) years, with medians of 6.0 and 6.8 years, respectively. The mean age at which parents noticed symptoms was 3.4 (±1.9) years with a median of 3.0 years. The most frequently observed initial symptoms by parents included frequent falls (35.5 %), gait abnormalities (31.4 %), difficulties in stair climbing (17.2 %), developmental delay (13.6 %), and difficulties in rising from the floor (8.9 %). The presence of co-occurring neurocognitive conditions was associated with a delay of 1.12 years (p = 0.008) in the median age at suspected diagnosis and 1.0 years in the median age at diagnosis confirmation (p = 0,022). These results suggest that while there have been improvements in the age of diagnosis of DMD in Brazil in recent decades, diagnosis still occurs later than ideal and then what has been achieved in high-income countries.
期刊介绍:
The European Journal of Paediatric Neurology is the Official Journal of the European Paediatric Neurology Society, successor to the long-established European Federation of Child Neurology Societies.
Under the guidance of a prestigious International editorial board, this multi-disciplinary journal publishes exciting clinical and experimental research in this rapidly expanding field. High quality papers written by leading experts encompass all the major diseases including epilepsy, movement disorders, neuromuscular disorders, neurodegenerative disorders and intellectual disability.
Other exciting highlights include articles on brain imaging and neonatal neurology, and the publication of regularly updated tables relating to the main groups of disorders.