A Boy with Duchenne Muscular Dystrophy Who Never Walked

Background
Duchenne Muscular Dytrophy (DMD) is an X-linked genetic disease characterized bydelay in walking, progressive muscle weakness, and sometimes mental retardation. This condition is caused by deletion, duplication or point mutations in the dystrophin gene, and it is the most common form of muscular dystrophy . The gene is located at Xp21.2-p21.1. DMD gene consist of 79 codons and may result in clinical symptoms depending on where the deletion occurs but with a wide range of variations . We describe a 5-year-old boy with DMD who has never walked.
Case Report
This boy, the first child in the family, presented with delay in walking. There was no family history of muscle disease. He was delivered at term and was deemed hypotonic during follow-up. A diagnosis of DMD was made at the age of two, and two years later daily oral prednisolone treatment was initiated. He is followed by symptomatic treatments with physiotherapy. At the last follow-up he was 5 years and 6 months old with no effort to ambulate independently. In due course, he developed multiple joint contractures mainly in lower extremities.
Conclusions
No matter how large the mutation, almost every DMD boy will walk, albeit late. Our case had exons 3-60 hemizygously deleted and although he was 5 years and 6 months old, he had not taken a few steps. Although physical therapy and aerobic exercises had been applied from the time of diagnosis, joint contractures were not refrainable.