Treatment Options and Gene Therapy
Currently there are a few ways that OPMD can be treated with one of them being corrective surgery to fix the affected areas of the eyes and throat muscles, there is however no blanket treatment option is available for the disease and patients are treated based on their symptoms and some treatments do have unanticipated side effects such as the inability to completely close the eyelid after corrective surgery. A cricopharyngeal myotomy is one type of surgery performed where the throat muscle is cut so that the muscle remains relaxed when swallowing and allows for the passage of food or liquid without the danger of aspiration. In a secondary surgery a feeding tube may be inserted directly into the small intestine designed to bypass the act of swallowing altogether. Beyond corrective surgeries, patients may find orthopedic device aids such as canes or walkers to be beneficial to their daily activities.
In research new gene therapy options have emerged that may help patients with OPMD regain healthy muscle strength and eliminate muscle fibrosis. In a study that began in two thousand fourteen and conducted on mice, researchers believe that they have found a way to replace the defective PABPN1 gene in OPMD patients by two thousand eighteen. A joint efforts between researchers in Paris, London and the United States Benitec used a DNA-directed RNA interference (ddRNAi) technique to first shut down and then replace the defective gene and then replace it with a functional one using two different viral vectors and found that this approach was instrumental in restoring muscular function in OPMD affected mice. The technique has further been refined into a single vector system that is more efficient and managed to eliminate eighty-eight percent of the defective gene and restoring ninety percent of gene function.