Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort study
BackgroundDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are rare X-linked neuromuscular disorders that typically begin in childhood and progress to functional decline, loss of ambulation, and early death due to cardiac or respiratory failure.ObjectiveTo describe the landscape...
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1569505/full |
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| author | Mohammad Sawahreh Fatima Al-Maadid Khalid Omer Ibrahim Tawfeg Ben Omran Mahmoud Fawzi Osman |
| author_facet | Mohammad Sawahreh Fatima Al-Maadid Khalid Omer Ibrahim Tawfeg Ben Omran Mahmoud Fawzi Osman |
| author_sort | Mohammad Sawahreh |
| collection | DOAJ |
| description | BackgroundDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are rare X-linked neuromuscular disorders that typically begin in childhood and progress to functional decline, loss of ambulation, and early death due to cardiac or respiratory failure.ObjectiveTo describe the landscape of DMD and BMD in Qatar, including demographics, genetics, disease progression, risk factors, co-morbidities, and outcomes in patients aged 3–30 years, and compare findings with international data.MethodsWe retrospectively reviewed records of all genetically confirmed or biopsy-supported cases of DMD and BMD between 2018 and 2024 at Sidra Medicine, the sole pediatric tertiary center in Qatar.ResultsOf the 37 symptomatic patients (36 DMD, 1 BMD), 36 were male and one was a symptomatic female. The mean age was 18 years (range 3–30). At diagnosis, median age was 3.0 years. Twenty-two (59%) had orthopedic complications (scoliosis, contractures), 9 (24%) could still run, and 12 (32%) could climb stairs. Corticosteroids were prescribed in 14 patients (38%), most commonly deflazacort and prednisone. Cardiac medications were started in 7 patients (19%) around age 10. CK was elevated in 36/37 (range: 2,300–45,000 U/L). Epilepsy was documented in 3 patients; 3 had autism and 1 had ADHD. Genetic mutations included deletions (69%), duplications (11%), and point mutations (19%). Seven patients had mutations affecting Dp140/Dp71 isoforms and cognitive impairment.ConclusionsOur cohort reveals earlier diagnosis but lower life expectancy compared to international standards, likely due to lower corticosteroid and cardioprotective use. The findings support the need for strengthened multidisciplinary and early genetic-based interventions in Qatar |
| format | Article |
| id | doaj-art-a69f6cb80e214b57803bba04f1f06da8 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-a69f6cb80e214b57803bba04f1f06da82025-08-20T03:34:13ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-08-011310.3389/fped.2025.15695051569505Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort studyMohammad Sawahreh0Fatima Al-Maadid1Khalid Omer Ibrahim2Tawfeg Ben Omran3Mahmoud Fawzi Osman4Department of Pediatrics, Division of Pediatric Neurology, Sidra Medicine, Doha, QatarDepartment of Pediatrics, Division of Pediatric Neurology, Sidra Medicine, Doha, QatarDepartment of Pediatrics, Division of Pediatric Neurology, Sidra Medicine, Doha, QatarDepartment of Pediatrics, Division of Genetic and Genomic Medicine, Sidra Medicine, Doha, QatarDepartment of Pediatrics, Division of Pediatric Neurology, Sidra Medicine, Doha, QatarBackgroundDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are rare X-linked neuromuscular disorders that typically begin in childhood and progress to functional decline, loss of ambulation, and early death due to cardiac or respiratory failure.ObjectiveTo describe the landscape of DMD and BMD in Qatar, including demographics, genetics, disease progression, risk factors, co-morbidities, and outcomes in patients aged 3–30 years, and compare findings with international data.MethodsWe retrospectively reviewed records of all genetically confirmed or biopsy-supported cases of DMD and BMD between 2018 and 2024 at Sidra Medicine, the sole pediatric tertiary center in Qatar.ResultsOf the 37 symptomatic patients (36 DMD, 1 BMD), 36 were male and one was a symptomatic female. The mean age was 18 years (range 3–30). At diagnosis, median age was 3.0 years. Twenty-two (59%) had orthopedic complications (scoliosis, contractures), 9 (24%) could still run, and 12 (32%) could climb stairs. Corticosteroids were prescribed in 14 patients (38%), most commonly deflazacort and prednisone. Cardiac medications were started in 7 patients (19%) around age 10. CK was elevated in 36/37 (range: 2,300–45,000 U/L). Epilepsy was documented in 3 patients; 3 had autism and 1 had ADHD. Genetic mutations included deletions (69%), duplications (11%), and point mutations (19%). Seven patients had mutations affecting Dp140/Dp71 isoforms and cognitive impairment.ConclusionsOur cohort reveals earlier diagnosis but lower life expectancy compared to international standards, likely due to lower corticosteroid and cardioprotective use. The findings support the need for strengthened multidisciplinary and early genetic-based interventions in Qatarhttps://www.frontiersin.org/articles/10.3389/fped.2025.1569505/fullDuchenne muscular dystrophyBecker muscular dystrophydystrophinopathymutation analysisQatarcognitive impairment |
| spellingShingle | Mohammad Sawahreh Fatima Al-Maadid Khalid Omer Ibrahim Tawfeg Ben Omran Mahmoud Fawzi Osman Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort study Frontiers in Pediatrics Duchenne muscular dystrophy Becker muscular dystrophy dystrophinopathy mutation analysis Qatar cognitive impairment |
| title | Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort study |
| title_full | Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort study |
| title_fullStr | Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort study |
| title_full_unstemmed | Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort study |
| title_short | Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker muscular dystrophy patients in Qatar: a retrospective cohort study |
| title_sort | patient demographics clinical characteristics and genetic mutations of dmd and bmd patients in qatar epidemiological and genetic profile of duchenne muscular dystrophy and becker muscular dystrophy patients in qatar a retrospective cohort study |
| topic | Duchenne muscular dystrophy Becker muscular dystrophy dystrophinopathy mutation analysis Qatar cognitive impairment |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1569505/full |
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