31.7 Treatments for DMD

Since the size of dystrophin gene is large, it is susceptible to random mutations. It has been observed that almost two third DMD cases are due to deletion mutation within dystrophin gene whereas one third DMD cases are due to nonsense point mutation which affects the reading frame of the transcript. As a result of nonsense point mutation truncated and non-functional dystrophin protein is formed. Till date no cure for DMD has been found. Thus, the current therapies aim at increasing the quality of life of the patient by controlling the symptoms. Pharmacological strategy involves:

a) The use of a cocktail of drug like prednisone and deflazacort or prednisone and cyclosporine-A. Prednisone is a corticosteroid, believed to delay muscle degeneration by suppressing the individual's immune system and inhibiting muscle proteolysis. Prednisone also enhances the synthesis of utrophin which is an analogue of dystrophin. The administration of 0.75mg of prednisone (per Kg of the individual per day) increases working of the muscle by two to three years. Side effects of this drug include osteoporosis, high blood pressure, gastro-intestinal pain, cataract, mood swings and excess weight gain.

b) Administration of monoclonal antibodies against myostatin (limits muscle growth) in mdx mouse has shown increased, better muscle functionality and decreased muscle degeneration (low creatinine phosphokinase production). This method needs to be further tested before use in human clinical trials.