There are a number of types of MD, and each showvaried symptoms. However, not all types of muscular dystrophies are life-threatening and mobility impeding.
MD is known to be caused by the mutation of genes that are responsible for the growth, structure and functioning of muscles. As the name suggests, Muscular Dystrophy is related to the mutations of the dystrophin gene; dystrophin protein is present in the muscle fiber membrane. Affected muscles show greater reduction in the concentration of dystrophin when compared with normal muscles. The helical nature of this protein helps it behave like a spring, absorbing shock and getting back into previous position. Moreover, MD can occur because of genetic mutations that are inherited from parents, and during embryo development stage.
There are several types of MD; some of which start showing symptoms at a very early age while others exhibit them during teenage or early 20s.
Duchenne MD and Becker MD are the most common types of MDs and they are closely related to each other. While Duchenne MD affects boys during early childhood, Becker MD starts developing at a later stage. Myotonic MD and Facioscapulohumeral MD can develop at any age but the former initially affects the facial muscles while the latter affects the shoulder blades. Oculopharyngeal MD develops later in life, and starts by affecting the eyelids. Limb-girdle MD affects the hip and the shoulder muscles, and its symptoms start showing in early childhood. Congenital MD becomes evident at birth or before the child turns2.
Although there are currently no permanent curefor muscular dystrophy, current treatment methods have been successful in keeping the patients remain mobile for as long as possible. Extensive gene therapy research is being conducted with an aim to find treatment, and control the prognosis of various types of muscular dystrophy. There are medications such as corticosteroids that are being used to delay the prognosis of certain muscular dystrophy conditions. However, using these medications for a consistent period of time is known to weaken bones drastically.
In addition to medication, a number of medical practioners also suggest assistive therapies such as the use of mobility aids, breathing assistance devices, and a number of range-of-motion exercises to help muscular dystrophy patients improve their quality of life.
According to a research conducted at the University of New South Wales, it is possible to increase the ability of stem cells to regrow damaged tissue. This experimental procedure has been successfully conducted on mice that suffer from damaged muscles. The research team had adapted a procedure that is normally used in bone marrow transplantations. They induced chemotherapy-resisting gene into adult stem cells, thereby increasing their ability to clear out damaged cells, and help new and healthy cells grow. This regenerating capability of adult stem cells gives new hope to patients suffering from muscular diseases. Although this experiment is still in its nascent pre-clinical trials stage, it is believed to be effective in treating specific forms of muscular dystrophy in humans. In fact, human trials could start within a year or two.
In another study, researchers at the Cedars- Sinai Heart Institute found that drugs prescribed for erectile dysfunction or pulmonary hypertension is effective in restoring blood flow to various oxygen-lacking muscles. This study was conducted on 10 boys suffering from Duchenne muscular dystrophy. It was noted that the effects of a single dose of Tadalafil was able to restore blood flow to various exercising muscles. A phase III clinical trial has been launched to find out if ongoing Tadalafil and sildenafil administration can provide long-term and sustained effects on muscles, and prevent muscular degeneration,and slow the progression of themuscle-wasting diseases.