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Results After one-year theray, 70% of patients with delayed language achieved the expected target and most dysarthria were corrected.

结果 经过 1年的治疗,70 %的语言发育迟缓患儿达到预期的训练目标,大部分构音障碍患儿得到矫正。

Clinically, there may be a variety of similar to the performance of lacunar syndrome, such as pure athletic hemiparesis, pure sensory stroke, ataxia hemiparesis, dysarthria - clumsy hand syndrome, sensorimotor stroke and so on.

临床上可出现各种类似腔隙性综合征的表现,如单纯运动性轻偏瘫,单纯感觉性卒中,共济失调轻偏瘫,构音障碍——手笨拙综合征,感觉运动性卒中等。

Gene mutations were detected in 25 patients and a 18-year-old girl among 16 families. Trinucleotide repeats of CAG were 73~79. The fragments of abnormal alleles were 380~402bp, and all patients were heterozygous. The copy numbers of normal alleles were 18~40, fragments from 202~270bp. SCV reduction was much obvious compared to MCV, MCV and SCV in lower limb ?ere much more slow than that in upper's. BAEP, VEP were also delayed in latency. The anticipation in parental sex bias were much more obvioius than that in matental's. Cerebellar ataxia was most severe, the next were dysarthria and bulging eyes. Amytrophy was seen only in bed ridden patients. Cerebellar atrophy was more severe than brain stem, cord atrophy was n't observed in all MJD.

结果检出10个家系25例病人及1例症状前18岁女孩有MJD基因突变,CAG三核苷酸重复73~79次,异常等位基因片段长380~402bp,均为杂合子;正常人CAG三核苷酸重复18~40次,等位片段长200~270bp,电生理发现MJD的SCV减慢比MCV明显,而下肢的MCV、SCV又较上肢明显,BAEP、VEP均有不同程度的潜伏期延长或波的异常;MJD的父亲遗传早于母亲,进展也较块,临床以小脑性共济失调为突出症状,其次为构音障碍、突眼等,肌肉萎缩仅见于晚期病人;MRI示小脑萎缩较明显,脑干萎缩并不严重,未见明显的颈髓萎缩。

Muscle stretch reflexes were normal but plantar reflexes were extensor bilaterally. His coordination was impaired in proportion to weakness in all four extremities. He had mild nuchal rigidity of the neck with positive Brudzinski's sign. On physical examination, erythema nodosum like dark red, painful lesions were noticed on both anterior aspects of the legs. His ophthalmological examination did not reveal any signs of uveitis. He also complained of pain and fever in his scrotum, and urological examination showed swelling, induration, and marked tenderness of epididymia on both sides as the clinical findings of epididymitis.

神经查体示:神志清楚、定向力完好;语言功能方面,患者可以命名、重复、阅读并按指示完成指令动作,但出现严重的构音障碍;颅神经及眼底检查未见异常;四肢肌力轻度减弱,右侧更为明显;呈宽步基步态且步态不稳;共济运动受损;四肢腱反射正常;双侧跖反射;轻度颈强直,Brudzinski征。

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