Evaluation of cases with congenital muscular dystrophy

Aim: The aim of this study is to evaluate clinical and radiological features of our cases with congenital muscular dystrophy. Material and Method: The data of cases who were diagnosed with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylul University School of Medicine between July 2005 and July 2008 were analysed retrospectively. Results: A total of 13 cases were evaluated. Among the 13 cases, seven (53%) were boys and six (47%) were girls. Seven patients (53%) were in the alfa dystroglycanopathy group, five patients (38%) were in collagen VI related congenital muscular dystrophy group and one patient (9%) was in "rigid spine" group. The mean age of cases with alfa dystroglycanopathy and collagen VI related congenital muscular dystrophy were 3.57 +/- 2.92 (0.5-7) and 10.83 +/- 5.67 (1-16) years, respectively. In alfa dystroglycanopathy group, five cases (71%) had eye involvement and six cases (85%) had developmental malformations of the central nervous system. All cases had brainstem hypoplasia and six cases (85%) had cerebellar cysts. In collagen VI related congenital muscular dystrophy group, the main complaints were retardation in motor mile stones, contractures in proximal joints and hyperlaxicity in distal joints. The most important clinical features in the case diagnosed with "rigid spine" syndrome were severe scoliosis and muscle atrophy. Conclusions: The clinical features of congenital muscular dystrophies are heterogenous and increase in number of cases diagnosed as congenital muscular dystrophy should give an opportunity to determine the incidence of different types of congenital muscular dystrophies in our country. (Turk Arch Ped 2009; 44: 23-8)