HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH DIAPHRAGM AND VOCAL CORD PARESIS
HEREDITARY MOTOR AND SENSORY NEUROPATHY WITH DIAPHRAGM AND VOCAL CORD PARESIS
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DOI：
10.1002/ana.410350515
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发表时间：
1994-05-01
影响因子：
11.2
通讯作者：
ARONSON, AE
中科院分区：
文献类型：
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作者：
DYCK, PJ;LITCHY, WJ;ARONSON, AE
我们描述了两个常染色体显性遗传性疾病家系，其特征是四肢、声带和肋间肌肉不同程度的肌肉无力，以及严重患者从婴儿期或儿童期开始的无症状感觉丧失。由于呼吸衰竭，受影响严重的患者的预期寿命会缩短。由于神经传导速度正常，是一种遗传性轴索神经病，我们将其归类为遗传性运动和感觉神经病II(HMSN II)(HMSN II C)。本报告为遗传性运动和感觉神经病II型障碍之间的异质性提供了进一步的证据。在一个IIc型疾病大家系中，未发现与位于染色体17p上的HMSN IA基因座或染色体1q上的HMSN IB基因座附近的DNA标记的连锁。
We describe two kindreds with an autosomal dominant inherited disorder characterized by a variable degree of muscle weakness of limbs, vocal cords, and intercostal muscles and by asymptomatic sensory loss, beginning in infancy or childhood in severely affected persons. Life expectancy in severely affected patients is shortened because of respiratory failure. Because nerve conduction velocities are normal and it is an inherited axonal neuropathy, we classify the disorder as a variety of hereditary motor and sensory neuropathy type II (HMSN II) (HMSN IIc). The present report provides further evidence for heterogeneity among the hereditary motor and sensory neuropathy type II disorders. In one large pedigree with the type IIc disorder, no linkage to DNA markers known to map near the HMSN IA locus on chromosome 17p or the HMSN IB locus on chromosome 1q was demonstrated.