Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.
Neurol India. 2010 Sep-Oct;58(5):691-6. doi: 10.4103/0028-3886.72164.
Sarcoglycanopathies are a group or autosomal recessive muscular dystrophies designated as α, β, γ, or δ sarcogycanopathy.
It is a retrospective analysis of case series.
Sixty six patients immunohistochemically confirmed to have sarcoglycan deficiency were included in the analysis. The study period extended from 1997-2008. The male to female ratio was 1.5:1. Mean age at the onset of muscle complaints was 6.2±3.7 years (range 1-18). Mean age at evaluation was 10.0±4.8 years (range 3-31). Mean duration of illness was 47.02±44.80 months (range 3-325). Onset in the first decade was seen in 59 (89.4%) and 25 (42.4%) of these had onset before five years of age. The remaining seven (10.6%) had onset in second decade and none after 20 years of age. Consanguinity was present in 54 (81.8%). In 34 of 66 cases only a-SG was carried out and this had shown total absence of staining in all fibers. In the remaining 32 cases where the entire panel was performed, absence of all sarcoglycans was noted in 10 (15.1%), isolated α-SG deficiency in 7 (10.6%), isolated β-SG deficiency in 6 (9.1%), and isolated γ-SG deficiency in 3 (4.5%). Combination deficiency was also observed: absence of α and β (n=4), β and γ (n=2), and α and γ (n=1).
Our series was a large series and with predominantly pediatric age group. Sarcoglycanopathy should be particularly suspected in a child born to consanguineous parents and who presents with proximal muscle weakness and calf hypertrophy, elevated CK level, and myopathic pattern on EMG.
假性肥大型肌营养不良症是一组常染色体隐性遗传性肌肉疾病，可分为α、β、γ 和 δ 型假性肥大型肌营养不良症。
这是一项病例系列的回顾性分析。
共纳入 66 例经免疫组织化学证实存在假性肌营养不良蛋白缺陷的患者。研究期间为 1997 年至 2008 年。男女比例为 1.5:1。出现肌肉症状的平均年龄为 6.2±3.7 岁（范围 1-18 岁）。评估时的平均年龄为 10.0±4.8 岁（范围 3-31 岁）。平均病程为 47.02±44.80 个月（范围 3-325 个月）。10 岁前发病者占 59 例（89.4%），其中 25 例（42.4%）发病年龄小于 5 岁。其余 7 例（10.6%）发病年龄在 10 岁后，无 20 岁后发病者。54 例（81.8%）存在近亲结婚。66 例患者中有 34 例仅进行了 α-SG 检测，所有纤维均完全缺失染色。在其余 32 例进行了整个检测面板的患者中，有 10 例（15.1%）存在所有假性肌营养不良蛋白缺失，7 例（10.6%）存在孤立的 α-SG 缺乏，6 例（9.1%）存在孤立的 β-SG 缺乏，3 例（4.5%）存在孤立的 γ-SG 缺乏。还观察到组合缺陷：α 和 β 同时缺失（n=4）、β 和 γ 同时缺失（n=2）以及 α 和 γ 同时缺失（n=1）。
我们的系列研究是一项大样本研究，主要为儿科年龄组。对于出生于近亲结婚家庭、表现为近端肌无力和小腿肥大、肌酸激酶水平升高以及肌电图呈肌病表现的儿童，应特别怀疑假性肌营养不良症。
