Laing远端肌病(OMIM:160500)是一种由编码骨骼肌和心室1型纤维的肌球蛋白重链7(recombinant myosin heavy chain 7,MYH7)基因(OMIM:160760)突变引起的罕见遗传性远端肌无力病[1]。该疾病在国内少有报道,我们收治了1例通过基因诊断确诊为...Laing远端肌病(OMIM:160500)是一种由编码骨骼肌和心室1型纤维的肌球蛋白重链7(recombinant myosin heavy chain 7,MYH7)基因(OMIM:160760)突变引起的罕见遗传性远端肌无力病[1]。该疾病在国内少有报道,我们收治了1例通过基因诊断确诊为MYH7基因突变所致的Laing远端肌病伴有脊柱侧凸的患者,择期行后入路胸腰椎融合及后入路腰骶融合术对脊柱进行矫形,总结分析其临床资料并对相关文献资料进行复习,以期提高对本疾病的认识,报道如下。展开更多
青少年上肢远端肌萎缩症（juvenile muscular atrophy of the distalupper limb）又称平山病（hirayamadisease,HD）,由日本学者平山惠造在1959年首先报道[1],是一种良性自限性运动神经元疾病,主要特征为单侧前臂肌萎缩,尺侧明显,桡侧...青少年上肢远端肌萎缩症（juvenile muscular atrophy of the distalupper limb）又称平山病（hirayamadisease,HD）,由日本学者平山惠造在1959年首先报道[1],是一种良性自限性运动神经元疾病,主要特征为单侧前臂肌萎缩,尺侧明显,桡侧较轻。目前,全球报道不超过1500例,绝大部分在亚洲地区,以日本为多,印度、中国、韩国及中国台湾地区等也有报道,而鲜见于欧美国家[2]。现将我院近期收治的1例青少年上肢远端肌萎缩症病例报道如下,并对相关文献进行复习。展开更多
Background: Juvenile muscular atrophy of the distal upper extremity (Hirayama disease) is characterised by anterior horn cell loss in the lower cervical cord , presumably caused by anterior displacement of the dural s...Background: Juvenile muscular atrophy of the distal upper extremity (Hirayama disease) is characterised by anterior horn cell loss in the lower cervical cord , presumably caused by anterior displacement of the dural sac during neck flexio n. A recent report suggests that atopy and IgE may contribute to anterior horn d amage. Abstract Objective: To investigate whether IgE is a contributing factor in Hirayam a disease. Methods: Serum total IgE and allergen specific IgE were examined in 2 0 consecutive patients, and their correlations with clinical profiles investigat ed. Results: Past or present history of allergy/atopy was found in only four pat ients (20% ), but serum IgE was raised in 14 (70% ). Patients with hyperIgEaem ia had more severe clinical disabilities than those without (p = 0.01). In patie nts whose history of Hirayama disease was less than five years, serum total IgE was higher than in those with the disease for five years or more (p = 0.05). Con clusions: The results suggest that hyperIgEaemia is often associated with Hiraya ma disease and can facilitate its pathophysiology, particularly in the early pha ses of the disease. HyperIgEaemia does not appear to involve the anterior horn c ells primarily.展开更多
Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myo pathy, tibial muscular dystrophy (TMD; MIM 600334), and limb...Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myo pathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dys trophy 2J (LGMD2J). Methods: Three hundred eighty-six individuals were genotype d for the Finnish founder mutation in titin (FINmaj) causing TMD/LGMD2J. Results : Two hundred seven patients were heterozygous for the mutation. Among these pat ients, 189 (91%) had a more common phenotype compatible with the classic descri ption of TMD. However, 18(9%) had unusual phenotypes such as proximal leg or po sterior lower leg muscle weakness and atrophy even at onset.Four patients were c onfirmed homozygotes representing the LGMD2J phenotype. These homozygotes were h alf of the eight LGMD patients previously described in the original large consan guineous kindred. Conclusions: Large variability of phenotypic expression caused by just one mutation, the Finnish FINmaj, suggests that no certain phenotype of myopathy/dystrophy can be excluded from being caused by mutated titin. Yet unkn own homozygous or compound heterozygous titin mutations without phenotype in the heterozygote carriers may be responsible for undetermined recessive MD and LGMD .展开更多
文摘Laing远端肌病(OMIM:160500)是一种由编码骨骼肌和心室1型纤维的肌球蛋白重链7(recombinant myosin heavy chain 7,MYH7)基因(OMIM:160760)突变引起的罕见遗传性远端肌无力病[1]。该疾病在国内少有报道,我们收治了1例通过基因诊断确诊为MYH7基因突变所致的Laing远端肌病伴有脊柱侧凸的患者,择期行后入路胸腰椎融合及后入路腰骶融合术对脊柱进行矫形,总结分析其临床资料并对相关文献资料进行复习,以期提高对本疾病的认识,报道如下。
文摘青少年上肢远端肌萎缩症（juvenile muscular atrophy of the distalupper limb）又称平山病（hirayamadisease,HD）,由日本学者平山惠造在1959年首先报道[1],是一种良性自限性运动神经元疾病,主要特征为单侧前臂肌萎缩,尺侧明显,桡侧较轻。目前,全球报道不超过1500例,绝大部分在亚洲地区,以日本为多,印度、中国、韩国及中国台湾地区等也有报道,而鲜见于欧美国家[2]。现将我院近期收治的1例青少年上肢远端肌萎缩症病例报道如下,并对相关文献进行复习。
文摘Background: Juvenile muscular atrophy of the distal upper extremity (Hirayama disease) is characterised by anterior horn cell loss in the lower cervical cord , presumably caused by anterior displacement of the dural sac during neck flexio n. A recent report suggests that atopy and IgE may contribute to anterior horn d amage. Abstract Objective: To investigate whether IgE is a contributing factor in Hirayam a disease. Methods: Serum total IgE and allergen specific IgE were examined in 2 0 consecutive patients, and their correlations with clinical profiles investigat ed. Results: Past or present history of allergy/atopy was found in only four pat ients (20% ), but serum IgE was raised in 14 (70% ). Patients with hyperIgEaem ia had more severe clinical disabilities than those without (p = 0.01). In patie nts whose history of Hirayama disease was less than five years, serum total IgE was higher than in those with the disease for five years or more (p = 0.05). Con clusions: The results suggest that hyperIgEaemia is often associated with Hiraya ma disease and can facilitate its pathophysiology, particularly in the early pha ses of the disease. HyperIgEaemia does not appear to involve the anterior horn c ells primarily.
文摘Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myo pathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dys trophy 2J (LGMD2J). Methods: Three hundred eighty-six individuals were genotype d for the Finnish founder mutation in titin (FINmaj) causing TMD/LGMD2J. Results : Two hundred seven patients were heterozygous for the mutation. Among these pat ients, 189 (91%) had a more common phenotype compatible with the classic descri ption of TMD. However, 18(9%) had unusual phenotypes such as proximal leg or po sterior lower leg muscle weakness and atrophy even at onset.Four patients were c onfirmed homozygotes representing the LGMD2J phenotype. These homozygotes were h alf of the eight LGMD patients previously described in the original large consan guineous kindred. Conclusions: Large variability of phenotypic expression caused by just one mutation, the Finnish FINmaj, suggests that no certain phenotype of myopathy/dystrophy can be excluded from being caused by mutated titin. Yet unkn own homozygous or compound heterozygous titin mutations without phenotype in the heterozygote carriers may be responsible for undetermined recessive MD and LGMD .
