Frijns C J, Van Deutekom J, Frants R R, Jennekens F G
Department of Neurology, St. Lucas Hospital, Amsterdam, The Netherlands.
Muscle Nerve. 1994 Feb;17(2):192-7. doi: 10.1002/mus.880170210.
The affected members of the family described in this article exhibit congenital nonprogressive atrophy and weakness of lower limb muscles in association with contractures. Clinical and laboratory findings support a dominant lower motor neuron disorder. DNA analysis excluded linkage of the disease with SMA markers on the long arm of chromosome 5. The condition must be differentiated from congenital and infantile SMA, from "arthrogryposis multiplex congenita, distal type," and from non hereditary types of congenital arthrogryposis.
本文所述家族中的患病成员表现为先天性非进行性下肢肌肉萎缩和无力，并伴有挛缩。临床和实验室检查结果支持一种显性下运动神经元疾病。DNA分析排除了该疾病与5号染色体长臂上脊髓性肌萎缩症（SMA）标记物的连锁关系。这种情况必须与先天性和婴儿型SMA、“先天性多发性关节挛缩症，远端型”以及先天性关节挛缩症的非遗传类型相鉴别。
