腓骨肌萎缩症的临床与遗传特点_张付峰.pdf

# 94# J C lin Neurol, April 2005, V ol. 18, No. 2 # # 张付峰, 唐北沙, 罗巍, 张如旭, 赵国华, 严新翔 = ( CMT) 70 CMT 110 B 2103B 1, 1~ 61, 19. 1, 30 78. 2% ; 70 ( 631 6% ), 17 , 5 ( 619% ) 106 ( 9614% ), 48 ( 4316% ) , 64 ( 5812% ), 68( 6118% ), 108( 981 2% ), 37; 25, // 0 20, 5, CMT, ; CMT = ; ; = R745 = A = 1004-1648( 2005) 02-0094-03 C lin ical and gene tic characteristics of Charcot-M ar ie-Tooth d isease ZHANG Fu-f eng, TAN G B ei-sha, L UO W e,i et al. D ep artm ent of N eurolog , X iang aH osp ita,l Central South Universit , Changsha 410008, Ch ina A bstrac t: O bj ective To evaluate t e clinical and genetic c aracteristics of C arcot-M arie-Toot d isease ( CMT ). M e thods T e clin ical m aterials and ereditary istories of 110 cases in 70 fam ilies w it CMT w ere analyzed retrospectively. R esu lts T e ratio ofm ale to femalew as 2103B 1. T e age at onset w as from 1 to 61 years old and t e m ean age was 191 1 years old. 7812% of t e patients ad CMT before 30 years old1 70 patients ( 6316% ) ad positive fam ily istory and t ey s ow ed m ostly autosomal dom inant in eritance. T e rate of consanguin ity was 61 9% . In t e CMT group, w e could find t e am yotrop y of legs in 106 patients ( 9614% ), d istalmuscle weakness and atrop y of t e upper lmi bs in 48 patients ( 431 6% ), stork legs in 64 patients ( 5812% ) , pes cavus in 68 patients ( 6118% ), decreased or dmi in is ed tendom reflexes in 108 patients ( 981 2% ). E lectromyograp y exam ination in 61 patients s owed neurogen ic dam ages. Muscle b iopsy in 37 patients s ow ed neu rogen ic amyotrop y. Sural nerve b iopsy w as perform ed in 25 patients. 2