Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report [0.03%]
一例模仿肢体带肌营养不良的肌丝肌病8型： Tunisia首例报告
Mohamed Slim Majoul,Rania Zouari,Anis Hassine et al.
Mohamed Slim Majoul et al.
Myofibrillar myopathy (MFM) type 8, caused by PYROXD1 gene variants, has recently been identified and has been rarely reported to date. Our aim was to report the first case of MFM type 8 from Tunisia with delayed diagno...
Maurizio Bossola,Annalisa Senatore,Enrico Di Stasio
Maurizio Bossola
Hypokalemic periodic paralysis (HypoPP) is a rare disease that consists of attacks of flaccid paralysis that often occur at night or early in the morning. Some patients with HypoPP may develop permanent muscle weakness and permanent myopath...
Risdiplam therapy in adult patients with Spinal muscular Atrophy (SMA). A 24-month-real-world experience at a single muscular centre [0.03%]
在单个肌营养不良中心接受risdiplam治疗的脊髓性肌萎缩症(SMA)成人患者：长达24个月的真实世界经验
Elia Cesarone,Esther Picillo,Marianna Scutifero et al.
Elia Cesarone et al.
Introduction: Treatment with Risdiplam has been recently extended to adult patients with Spinal Muscular Atrophy (SMA). We describe the experience of a single neuromuscular centre in Italy in treating adult SMA patients w...
Luisa Politano
Luisa Politano
Periodic paralyses (PPs) are rare skeletal muscle ion channelopathies caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs can be divided into primary periodic paralyses (PPPs) and secondary PPs by the ae...
Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases [0.03%]
突变型肢带性肌营养不良症的临床表型研究——对28例摩洛哥患者的分析
Najoua Mouloudi,Bouchra Kably,Sanae Sefiani et al.
Najoua Mouloudi et al.
Introduction: Dysferlinopathies are a spectrum of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF), leading to heterogeneous phenotypes, mainly limb-girdle muscular dystrophy type ...
Giant cell myositis confined to the lower extremities without associated thymoma or myasthenia gravis: a case report [0.03%]
局限于下肢且无胸腺瘤或重症肌无力的巨细胞肌炎一例报告
Enrique Elsaca,Felipe Álvarez
Enrique Elsaca
Giant Cell Myositis (GCMm) is an exceptionally rare inflammatory myopathy, historically reported in association with Myasthenia Gravis (MG), Thymoma, or Giant Cell Myocarditis (GCMc). The prognosis is often dictated by the frequently co-occ...
3-Methyl Glutaconic Aciduria and Elevated Plasma Growth Differentiation Factor 15 Level in an Adult with Monoallelic SPG7 Pathogenic Variant [0.03%]
成人SPG7基因单等位致病变异导致的3-甲基谷太康酸尿症及血浆生长分化因子15水平升高
Bukola A Olarewaju,Ehab Y Harahsheh,Khaled I Dweik et al.
Bukola A Olarewaju et al.
Pathogenic variants in SPG7 cause autosomal dominant progressive muscular atrophy. SPG7 encodes an inner mitochondrial membrane protein, paraplegin. Burgeoning lines of evidence have continued to suggest important roles for paraplegin in mi...
Cardiac surveillance in the era of Duvyzat: do we need to do more? [0.03%]
杜维扎特时代的 cardiac 监测：我们是否需要做得更多？
Marika Pane,Anna Capasso,Chiara Arpaia et al.
Marika Pane et al.
Combining traditional context and sailing in the psychological approach to patients with muscular dystrophies. A pilot study [0.03%]
结合传统背景和心理取向照顾肌肉萎缩症患者的一项试点研究
Raffaella Manzo,Anna Annunziata,Simona Tozza et al.
Raffaella Manzo et al.
Introduction: Muscular diseases (MDs) are rare genetic conditions marked by progressive motor, cardiac, and respiratory decline, often accompanied by significant psychological and social challenges. Anxiety, depression an...
A rare case of focal myositis affecting the sternocleidomastoid muscle: diagnostic challenges and management strategies [0.03%]
特发性局部肌炎影响胸锁乳突肌的罕见病例：诊断挑战和治疗策略
Nicola Molitierno,Mosè Parisi,Delia Gagliardi et al.
Nicola Molitierno et al.
Introduction: Focal myositis is a rare inflammatory disease characterised by localised involvement of a single muscle or muscle group. Involvement of the sternocleidomastoid muscle represents an extremely rare localisatio...