SEVERE CHILDHOOD MUSCULAR-DYSTROPHY AFFECTING BOTH SEXES AND FREQUENT IN TUNISIA
SEVERE CHILDHOOD MUSCULAR-DYSTROPHY AFFECTING BOTH SEXES AND FREQUENT IN TUNISIA
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DOI：
10.1002/mus.880060702
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发表时间：
1983-01-01
期刊：
影响因子：
3.4
通讯作者：
ATTIA, N
中科院分区：
文献类型：
--
作者：
HAMIDA, MB;FARDEAU, M;ATTIA, N
一项研究的93名儿童提出了严重形式的进行性肌肉萎缩症。第一次临床症状出现在3-12岁之间。萎缩主要影响腰带和躯干肌肉。小腿的肥大几乎是一致的。病情进展严重，常与杜氏型相似。在大多数病例中，无法行走发生在10至20岁之间。血清肌酸激酶活性在疾病的第一阶段显着高。肌肉活检显示坏死再生模式，与明显的1型优势相关。该病表现为常染色体隐性遗传，在两性中分布均匀。在症状的强度和病程的严重程度上，从一个兄弟姐妹到另一个兄弟姐妹以及从一个家庭到另一个家庭都有明显的差异。这种疾病在突尼斯很常见，似乎与这个国家的高血缘关系有关。
A study of 93 children presenting a severe form of progressive muscular dystrophy is presented. The 1st clinical symptoms were noticed between 3-12 yr. The atrophy affects, predominantly, the girdle and truncal muscles. The hypertrophy of the calves is almost consistent. The progression of the disease is severe, often like that of the Duchenne type. In most of the cases, inability to walk occurs between 10 and 20 yr. The serum creatine kinase activity is markedly high in the 1st stages of the disease. There is a necrotic regenerative pattern at muscle biopsy, associated with a marked type 1 predominance. The disease appears to be inherited as an autosomal recessive trait, with equal distribution among the 2 sexes. There is a marked variability in the intensity of symptoms and in the severity of the course of the disease from 1 sibiling to another and from 1 family to another. This disease is frequent in Tunisia and seems to be related to the high degree of consanguinity in this country.