Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study [0.03%]
2016年至2022年华南地区20种罕见神经系统的疾病负担及患病率：基于医院的观察型研究
Jingjing Li,Shujin Tang,Jiaoxing Li et al.
Jingjing Li et al.
leukoencephalopathy, congenital myotonia, congenital myasthenic syndrome, Dravet syndrome, Fabry disease, hereditary spastic paraplegia, Huntington disease, Leber hereditary optic neuropathy, mitochondrial encephalopathy (ME), multi-focal motor neuropathy, myotonic dystrophy, primary hereditary dystonia, progressive...muscular dystrophy (PMD), spinal and bulbar muscular atrophy, spinal muscular atrophy (SMA), spinocerebellar ataxia, Wilson disease (WD) and X-linked adrenoleukodystrophy.
Observational Study
Orphanet journal of rare diseases. 2025 Apr 8;20(1):163. DOI:10.1186/s13023-025-03704-5 2025
Correction: A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy [0.03%]
纠正：一个新型的杜氏肌营养不良症小鼠模型携带多外显子Dmd缺失，表现出进行性肌肉萎缩和早发性心肌病
Tatianna Wai,Ying Wong,Abdalla Ahmed et al.
Tatianna Wai et al.
Published Erratum
Disease models & mechanisms. 2025 Apr 1;18(4):dmm052372. DOI:10.1242/dmm.052372 2025
Retinopathy associated with facioscapulohumeral muscular dystrophy. A case report treated with intravitreal dexamethasone implant and laser photocoagulation [0.03%]
与面肩肱型肌营养不良相关的视网膜病变。一例使用玻璃体腔内曲安奈德植入物和激光光凝治疗的病例报告
A B González Escobar,I E Molina Guilabert,R M García Herrera et al.
A B González Escobar et al.
Facioscapulohumeral muscular dystrophy (FSHMD) is a slowly progressive muscular dystrophy that affects especially the muscles of the face, shoulder girdle and upper arms. It may present extramuscular manifestations such as hearing loss and retinopathy.
Sergey N Bardakov,Roman V Deev,Vadim A Tsargush et al.
Sergey N Bardakov et al.
Dysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the DYSF gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemia in asymptomatic or low-symptom states.
Improving quality of life in palliative care: palatal lift prosthesis in a patient with periodontal disease [0.03%]
改善姑息治疗中患者的生活质量：牙周病患者的软腭提升义齿修复一例报告
Pritam Daniel Sundaresan,Michael Williams
Pritam Daniel Sundaresan
The patient had a diagnosis of progressive muscular dystrophy and mobilised in a motorised wheelchair. He was dependent for dressing and bathing, but independent for grooming. He had no cognitive impairment and provided his own consent.
Case Reports
BMJ case reports. 2025 Jan 28;18(1):e263574. DOI:10.1136/bcr-2024-263574 2025
Characterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne/Becker Muscular Dystrophy [0.03%]
Dp71型 dystrophin在胚胎脑发育中表达及互作蛋白的鉴定：对 Duchenne/Becker肌营养不良症的意义
Takahiro Fujimoto,Miyuki Mori,Madoka Tonosaki et al.
Takahiro Fujimoto et al.
Duchenne/Becker muscular dystrophy (DMD/BMD) manifests progressive muscular dystrophy and non-progressive central nervous disorder. The neural disorder is possibly caused by abnormalities in the developmental period; however, basic research to understand the mechanisms remains underdeveloped.
Molecular, Histological, and Functional Changes in Acta1-MCM;FLExDUX4/+ Mice [0.03%]
Acta1-MCM;FLExDUX4/+小鼠的分子、组织学和功能变化
Solene Sohn,Sophie Reid,Maximilien Bowen et al.
Solene Sohn et al.
Our results confirm the progressive muscular dystrophy previously described but also highlight biases associated with tamoxifen injections and the complexity of choosing the genes used to calculate a DUX4-pathway gene composite score.
Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities [0.03%]
面肩肱型肌营养不良的分子基础与治疗机会
Tessa Arends,Danielle C Hamm,Silvère van der Maarel et al.
Tessa Arends et al.
DUX4 expression in these skeletal muscles reactivates part of the early totipotent program and suppresses the muscle program-resulting in a progressive muscular dystrophy that affects some muscles earlier than others.
Subspecialty Health Care Utilization in Pediatric Patients With Muscular Dystrophy in the United States [0.03%]
美国肌肉营养不良症患儿的专科医疗利用情况
Susan E Matesanz,Jonathan B Edelson,Katherine A Iacobellis et al.
Susan E Matesanz et al.
Male patients 1-18 years with an ICD-9/10 diagnosis code for hereditary progressive muscular dystrophy between January 1, 2013, and December 31, 2017, were included. Participants were stratified into 3 age cohorts: 1-6 years, 7-12 years, and 13-18 years.
Hao Hu,Xiao-Wen Yang,De-Hua Cheng et al.
Hao Hu et al.
Duchenne/Becker muscular dystrophy (DMD/BMD) is one of the most common progressive muscular dystrophy diseases with X-linked recessive inheritance. It is mainly caused by the deletion, duplication and point mutation of DMD gene.
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