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...
Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication [0.03%]
杜氏肌营养不良症脂肪栓塞综合征：一个被忽视的并发症
Michele Tosi,Michela Catteruccia,Nicoletta Cantarutti et al.
Michele Tosi et al.
Introduction: Fat embolism syndrome (FES) is a rare but potentially life-threatening complication of long bone fractures, typically described in high-energy trauma. In patients with Duchenne Muscular Dystrophy (DMD), even...
Comorbid autosomal dominant LDLR- and collagen VI-related disorders [0.03%]
共病的常染色体显性低密度脂蛋白受体和VI型胶原相关疾病
Bukola A Olarewaju,David Melville,Judy B Tejon et al.
Bukola A Olarewaju et al.
Objectives: Collagen 6-related Bethlem myopathy and LDLR-related familial hypercholesterolemia are presumed to be quite rare in the general population. Ca...
Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement [0.03%]
Xp21区邻近基因缺失的严重新生儿期表现：肾上腺危象和神经肌肉受累
Sandra Stanković,Tatjana Stanković,Milica Ignjatović et al.
Sandra Stanković et al.
Background: Xp21 contiguous gene deletion syndrome is a rare X-linked disorder involving deletions of DMD, GK, and NR0B1 (DAX1), leading to a combination of Duchenne muscular dystrophy, glycerol kinase deficiency, and con...
The case of a highly trained TRPV4 related scapuloperoneal spinal muscular atrophy patient: a 5-year follow-up [0.03%]
一个与TRPV4有关的肩腓脊髓肌肉萎缩症的高度训练病例：五年随访
Oscar Crisafulli,Matteo Fortunati,Venere Quintiero et al.
Oscar Crisafulli et al.
Objectives: This case report explores the feasibility and effects of long-term physical exercise (PE) in a patient with TRPV4-related scapuloperoneal spinal muscular atrophy (SPSMA). ...