超声在婴幼儿先天性肌性斜颈诊疗中的应用价值

目的探讨超声在婴幼儿先天性肌性斜颈(CMT)诊疗中的应用价值。方法超声观测46例CMT婴幼儿胸锁乳突肌声像图特征并分型,超声随访评估患儿做被动伸展运动治疗的效果。结果患侧胸锁乳突肌肿块型18例,弥漫型28例;肌肉纤维化Ⅰ型18例,Ⅱ型23例,Ⅲ型5例。治愈44例(95%),2例未治愈者为幼儿,超声显示其肌肉病变弥漫型且纤维化严重(Ⅲ型)。结论超声对婴幼儿CMT具有能早期诊断、准确、安全和易操作的优点,对临床选择治疗方案和观察疗效均具有指导意义。     

肢带型肌营养不良的MRI表现

目的 观察肢带型肌营养不良的MRI表现。方法 回顾性分析7例经临床及病理检查确诊为肢带型肌营养不良患者的MRI资料,观察双侧大腿肌群脂肪沉积与炎性水肿情况,采用4分法进行评价。并进行统计学分析。结果 肢带型肌营养不良患者大腿肌群MRI均可见脂质沉积和炎性水肿性改变。不同肌肉间脂肪沉积(χ²=75.596,P<0.01)与炎性水肿差异均有统计学意义(χ²=41.368,P<0.01),双侧大腿肌群间脂肪沉积与炎性水肿差异均无统计学意义(P均>0.05)。结论 肢带型肌营养不良患者大腿肌群MRI信号特点及分布具有一定特征,MR检查有助于疾病的诊断。     

Kennedy病的临床、电生理和遗传学特点

目的探讨Kennedy病的临床、电生理及遗传学特点。方法对4例Kennedy病患者的临床资料进行回顾性分析。结果 4例患者均为中年男性,缓慢起病。首发症状为双下肢无力2例,咀嚼肌无力2例。主要临床表现为四肢进行性无力,肌肉萎缩,下肢相对较重,进展缓慢;4例患者均有肌束震颤,舌肌萎缩;乳房女性化3例,性功能减退2例。4例均有血清肌酸激酶增高,3例血脂增高、性激素水平升高,1例甲状腺功能异常。EMG表现为广泛的神经源性损害。4例患者的雄激素受体基因第一外显子CAG重复数为45~52。结论 Kennedy病是相对进展缓慢的四肢近端、延髓肌受累,以及内分泌和代谢异常的遗传性神经系统变形疾病,本病的确诊有赖于雄激素受体基因第一外显子CAG重复数的检测。     

α-Sarcoglycanopathy的临床和病理学特征(附2例报告)

目的探讨α-Sarcoglycanopathy的临床和病理学特征。方法回顾性分析2例α-Sarcoglycanopathy患者的临床资料。结果本组2例患者均表现为近端肌肉无力,进行性加重。肌肉活检均可见肌间结缔组织及脂肪组织增生,肌纤维萎缩,偶见肌纤维变性、坏死和吞噬现象,未见炎细胞浸润;免疫组化染色示抗α-Sarcoglycan蛋白完全缺失,抗β、γ、δ-sacogiycan蛋白和抗dystrophin蛋白部分缺失。结论α-Sarcoglycanopathy临床表现较其他类型肌营养不良无特异性,病理学特征为免疫组化染色示抗α-Sarcoglycan蛋白完全缺失。     

关节挛缩伴强直脊柱综合征1例报道并文献复习

目的报道1例以关节挛缩伴强直脊柱综合征为主要表现的肢带型肌营养不良2A(LGMD2A)病例,提高对以关节挛缩及强直脊柱综合征为主要表型的肌肉疾病的认识。方法收集1例以关节挛缩伴强直脊柱综合征为表征最终确诊为LGMD2A患者的临床资料、肌肉活检(病理染色、Western blot)、基因检测和肌肉影像学等资料,结合文献复习进行分析。结果患者除早期出现的全身关节挛缩伴强直脊柱外,合并有四肢近端肌肉萎缩、无力,明显翼状肩。家族史提示常染色体隐性或X连锁隐性遗传可能;肌肉MRI示大腿后群、内侧群,小腿后群显著受累;肌肉病理检查示肌营养不良表现;Western blot检测示calpain-3条带完全缺失,CAPN3基因检测示患者携带c.534AG(I178M)及c.411dupC(C137fs)双杂合突变,并均为新发突变。最终诊断为LGMD2A。结论临床中对于早发关节挛缩伴强直脊柱综合征的患者,需考虑LGMD2A可能,肌肉MRI可为LGMD2A的诊断和鉴别诊断提供重要线索。     

Old measures and new scores in spinal muscular atrophy patients

Introduction: A recent Rasch analysis performed on the Hammersmith Functional Motor Scale—Expanded (HFMSE) in patients with spinal muscular atrophy (SMA) identified issues impacting scale validity, redundant items, and disordered thresholds on some items. Methods: We modified the HMFSE scoring based on the Rasch analysis and on expert consensus to establish whether the traditional scoring overestimated the number of patients with changes within 2 points from baseline. Data were collected retrospectively from multicenter data sets in 255 type 2 and 3 SMA patients. Results: The mean 12‐month changes using the new and the traditional scoring system did not differ significantly (P > 0.05). The numbers of patients who improved or decreased by >2 points were also similar. Conclusions: The presence of outliers using the traditional scoring system was not due to overestimation of changes in activities that were tested bilaterally or to discrepancies in the scoring hierarchy of individual items. Muscle Nerve 52:435–437, 2015     

Invited review: Stem cells and muscle diseases: advances in cell therapy strategies

Despite considerable progress to increase our understanding of muscle genetics, pathophysiology, molecular and cellular partners involved in muscular dystrophies and muscle ageing, there is still a crucial need for effective treatments to counteract muscle degeneration and muscle wasting in such conditions. This review focuses on cell‐based therapy for muscle diseases. We give an overview of the different parameters that have to be taken into account in such a therapeutic strategy, including the influence of muscle ageing, cell proliferation and migration capacities, as well as the translation of preclinical results in rodent into human clinical approaches. We describe recent advances in different types of human myogenic stem cells, with a particular emphasis on myoblasts but also on other candidate cells described so far [CD133+ cells, aldehyde dehydrogenase‐positive cells (ALDH+), muscle‐derived stem cells (MuStem), embryonic stem cells (ES) and induced pluripotent stem cells (iPS)]. Finally, we provide an update of ongoing clinical trials using cell therapy strategies.     

Longitudinal 2‐point dixon muscle magnetic resonance imaging in becker muscular dystrophy

Introduction: Quantitative MRI techniques detect disease progression in myopathies more sensitively than muscle function measures or conventional MRI. To date, only conventional MRI data using visual rating scales are available for measurement of disease progression in Becker muscular dystrophy (BMD). Methods: In 3 patients with BMD (mean age 36.8 years), the mean fat fraction (MFF) of the thigh muscles was assessed by MRI at baseline and at 1‐year follow‐up using a 2‐point Dixon approach (2PD). The motor function measurement scale (MFM) was used for clinical assessment. Results: The mean MFF of all muscles at baseline was 61.6% (SD 7.6). It increased by 3.7% to 65.3% (SD 4.7) at follow‐up. The severity of muscle involvement varied between various muscle groups. Conclusions: As in other myopathies, 2PD can quantify fatty muscle degeneration in BMD and can detect disease progression in a small sample size and at relatively short imaging intervals. Muscle Nerve 51 : 918–921, 2015     

我国脊髓性肌萎缩症多学科管理和诊治模式

脊髓性肌萎缩症（SMA）主要累及运动神经元导致肌无力及肌萎缩,在疾病不同阶段可出现多系统（骨骼、呼吸、消化等）合并症。随着SMA的疾病修正治疗药物在国内的应用及研究的开展,SMA多学科管理及诊治模式迎来了新的挑战。该文从疾病修正药物治疗、康复管理、骨骼管理、营养管理、呼吸管理等方面进行了介绍。