A heterogeneous range of neuromuscular disorders includes conditions affecting motor neurons, peripheral nerves, and muscles. Duchenne muscular dysfunction (DMD) is the most severe and common type of muscular dystrophy. Mutations within the X-linked Dystrophin gene cause it. Dystrophin protein loss can lead to chronic inflammation, fibrosis progression, recurrent myofiber injury, and dysfunctional muscle stem cells. Although there have been many advances in diagnosis and treatment for DMD over the years, current therapies do not cure stereotypic movement disorder. We review the current state of DMD therapy and pathogenesis, focusing on the mutational spectrum, diagnostic tools, clinical trials, and therapeutic approaches, including myogenic cell transplantation, gene therapy, dystrophin restoration, and gene therapy.
It can shock to learn that you or your child has Duchenne muscular Dystrophy. This is a genetic condition that causes progressive loss in muscle function. Although Duchenne and the associated health issues have improved significantly over the past two decades, it can still be a shock to discover that you or your child has it. The community has allowed research on Duchenne, and its treatments, to progress to the point that several significant breakthroughs might be possible. Many families have remarked on how helpful it has been in helping them navigate new territory after a diagnosis. The community includes several organizations that include patient advocacy, a resource for treatment, research, and policy.
Muscular dystrophies can be a grouping of diseases that makes muscles less flexible and weaker over time. Duchenne muscular disorder (DMD) is the most prevalent type. This is caused by a gene mutation regulating how the body maintains muscle health. Symptoms usually appear in early childhood. DMD affects children who have difficulty standing, walking, or climbing stairs. Many people with DMD eventually require wheelchairs to move around. Many people with DMD will eventually need wheelchairs to get around. Children with DMD didn’t usually live past their teens in years past. They live into their 30s, sometimes even into their 40s and 50s. Researchers are searching for new therapies to ease symptoms.
There is no cure for muscular dystrophy. However, some treatments can prolong the life expectancy of those suffering from the disease. They can also help improve heart and lung strength. Many new therapies are being tested. People with muscular dystrophy need to be closely monitored throughout their lives. Their care team should include a neurologist with expertise in neuromuscular diseases, a physical medicine and rehabilitation specialist, and physical and occupational therapists. Some people might also need a lung specialist (pulmonologist), a heart specialist (cardiologist, a sleep specialist, a specialist in the endocrine system (endocrinologist), an orthopedic surgeon, and other specialists.
People with Duchenne muscular disorder (DMD) are now living longer thanks to medical advances in cardiology and pulmonology. To ensure that DMD patients receive the best possible treatment, multidisciplinary care is required. MDA Care Center doctors can create personalized care plans for DMD patients. They may also be able to help with any other medical or assistive needs. The surgical team should be aware of the patient’s DMD to avoid or treat complications. Patients with DMD and those with BMD should undergo preoperative evaluations by cardiac, anesthesia, and pulmonary specialists before any surgery.