Merkli Hajnalka, Pál Endre, Trauninger Anita, Kosztolányi Péter, Gáti István
Pécsi Tudományegyetem, Altalános Orvostudományi Kar.
Orv Hetil. 2004 Mar 7;145(10):523-8.
Myotonic dystrophy is the most frequent, autosomal dominantly inherited muscular dystrophy. The typical neurological picture (facial myopathy, myotonia, muscle atrophy) may be associated with cardial, endocrine and ocular symptoms.
The diagnosis is based on electromyography, muscle biopsy and genetical tests. Muscle histology is characterized by high frequency of central nuclei. Genetical tests detect CTG repeat expansion of the involved gene.
Authors summarize 9 cases found in the Neurology Clinic of Pecs University in the last three years.
The prevalence is lower than expected, therefore some cases might be unrecognized. After recognizing the typical clinical picture, electrophysiological, muscle biopsy, brain MRI, psychologic and molecular genetic studies were performed. Six patients belonged to 3 families and 3 sporadic cases were found. In all except one patient mild neurocognitive deficit was detected. Three patients had cataract and cardiac involvement.
The authors emphasize that in cases of cardial, endocrine and central nervous system involvement myotonic dystrophy must be considered and detailed examinations are necessary for early detection of the specific organ manifestations.
强直性肌营养不良是最常见的常染色体显性遗传性肌营养不良。典型的神经学表现（面部肌病、肌强直、肌肉萎缩）可能伴有心脏、内分泌和眼部症状。
诊断基于肌电图、肌肉活检和基因检测。肌肉组织学特征为中央核的高频率出现。基因检测可检测到相关基因的CTG重复序列扩增。
作者总结了过去三年在佩奇大学神经科诊所发现的9例病例。
患病率低于预期，因此可能存在一些未被识别的病例。在识别出典型临床表现后，进行了电生理、肌肉活检、脑部MRI、心理和分子遗传学研究。6例患者来自3个家庭，发现3例散发病例。除1例患者外，所有患者均检测到轻度神经认知缺陷。3例患者有白内障和心脏受累。
作者强调，在出现心脏、内分泌和中枢神经系统受累的情况下，必须考虑强直性肌营养不良，为早期发现特定器官表现进行详细检查是必要的。
