Özet:

Goal: Duchenne muscle dystrophy (DMD) is a disease seen with progressive muscle weakness caused by mutations in the DMD gene. In this study, we aimed at studying the relationship between different mutations in the DMD gene and motor functions in children with DMD. Method: Children with DMD diagnosis between January 2016 and January 2018 followed, able to walk and without any additional disease were included in the study. Demographic data, genetic mutation results, steroid use times and 6 minutes walk test results were recorded. The children were divided into 3 groups as those with division, duplication and point mutation according to the mutation in the DMD gene. The results of the six-minute walk test were compared between the three groups. Results: 33 male patients diagnosed with DMD were included in the study, with an average age of 6.7 ± 2 years (4-11 years). Twenty-two patients (67%) were divided, six patients (18%) were duplicated, five patients (15%) were point mutations. The average time of steroid use in 18 patients receiving steroid treatment was 1.6 ± 0.8 years (0.5-3 years). There was no significant difference between the age and the duration of steroid use between the three groups (p> 0.05). The average 6 minute walk distance of those detected in the DMD gen was 324 ± 51 meters (220-427 meters), 326 ± 77 meters (264-440 meters) and 285 ± 38 meters (250-326 meters) respectively. In terms of the six-minute walk test, the walk distance was shorter compared to the divisions and duplications in patients with point mutation, but statistically there was no significant difference between 3 groups (p> 0,05). In children with DMD, there is no meaningful relationship between the type of mutation in the DMD gene and the clinical course. The progression rate of the disease can show individual differences even in similar types of mutations.

Anahtar Kelimeler:

Özet:

Objective: Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness caused by mutations in the dystrophin gene. In this study, we aimed to investigate the relationship between different mutations in the dystrophin gene and motor functions in children with DMD. Material and Methods: Children with DMD followed-up between January 2016 and January 2018 were evaluated. Demographic data, genetic mutations, duration of steroid treatment and 6-minute walk test results were recorded. The children were divided into three groups according to the mutation in the dystrophin gene as deletion, duplication and point mutation. The 6-minute walk test results were compared between the three groups. Results: Thirty-three male patients with DMD at a mean age of 6.7 ± 2 years (4-11 years) were included in the study. Twenty-two patients (67%) had deletion, 6 patients (18%) had duplication and 5 patients (15%) had point mutations. The mean duration of steroid treatment was 1.6 ± 0.8 years (0.5 to 3 years) in 18 patients receiving steroid treatment. There were no significant differences between the three groups in terms of age and steroid use (p> 0.05). The mean 6-minute walk test result was 324 ± 51 meters (220-427 meters), 326 ± 77 meters (264-440 meters) and 285 ± 38 meters (250-326 meters) in children with deletion, duplication and point mutation of the dystrophin gene, respectively. Although the walking distance in 6-minute walk test was shorter in children with point mutation compared to the children with deletion and duplication, there was no statistically significant difference observed between the 3 groups (p> 0.05). Conclusion: There is no significant relationship between the type of mutation in the dystrophin gene and clinical course in children with DMD. The progression rate of the DMD may show a difference.