Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disease, with an incidence of 1 per 3500–9000 male children, although very rare, some cases have been observed in girls. It is caused by deletions, duplications and point mutations in the DMD gene (which encodes the protein dystrophin). Affected patients have progressive muscle weakness and will be wheelchair bound before or during their teens and eventually develop respiratory and cardiac dysfunction. In addition to the standard supportive therapy, recently there are many emerging genetic therapies for DMD targeting repair of the primary genetic defect. The purpose of this talk is to present the phenotypic and genetic spectrum of DMD patients in Qatar and highlight some of the genetic counselling aspects pertinent to the Qatari population.