Muscular dystrophy (MD) is a term that defines a group of muscle diseases that weaken the muscular system and limit movement. The muscular dystrophies are characterized by progressive muscle weakness, defects or absence of muscle proteins, and the death of muscle cells.
MD is more common in men than women. The most severe form of MD is Duchenne muscular dystrophy and was named after the French neurologist, Guillaume Duchenne.
MD is a genetically inherited disease in many cases. However, genetic mutations sometimes occur in the prenatal stage of development.
In the Duchenne form of MD, the DNA is not “coded” correctly and the individual can not make a protein known as dystrophin or other molecules of the dystrophin complex. Possibly the milder forms of MD might be caused in part by reduced levels of dystrophin in later life. The exact structure and biochemical composition of dystrophin are now known to medical science, but there is presently no cure for MD.
Spinal Muscular Atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons that results in progressive muscular atrophy and weakness. SMA, like MD, has a large range in levels of severity. SMA ranges from early infant death to a normal life with only mild muscle weakness in later life. SMA has a genetic basis and like MD, SMA patients can not produce sufficient quantities of a specific protein. In SMA the nerve signal to the muscles is impaired.
Dinakar Singh was a partner with Goldman Sachs Investment Bank and then left that corporation to start his own hedge fund. In 2001, Mr. Singh discovered that his young daughter had spinal muscular atrophy. Mr. Singh has spent almost $ 100 Million of his own money to create the Spinal Muscular Atrophy Foundation. He hopes that his investment will help his daughter, Arya.
Mr. Singh’s Foundation is now working with Novartis Pharmaceuticals of Basal, Switzerland. It appears that Novartis may have a drug for testing very soon.
Sanityandsense.com commends Mr. Singh for his work and efforts. Hopefully there will soon be medical cures for both MD and SMA.
R. Van Conoley