Rare Diseases: Spinal Muscular Atrophy

DMS will like to raise awareness to a very difficult, rare genetic disease: Spinal Muscular Atrophy (SMA). This disease that causes for muscle weakness and a gradual loss of movement. There are four types of this disease and they all vary through severity and the age type it attacks. Currently there is no cure for SMA and its treatment consist mainly of managing the symptoms that appear in order to prevent any further complications.

SMA occurs because of the deterioration in the motor neuron nerve cells that establish a connection between the brain, the spinal cord and the muscles. As this link breaks down, the muscles will start to progressively become weaker and weaker, and eventually will atrophy.

There are four different types of SMA, each different for the different age type it attacks. Type I is the most severe. It develops on babies that are less than six months old. The majority of babies who suffer from Type I SMA, die within the first two years.

Type II SMA, affects babies 6 to 18 months old, this type is less severe than Type I. The severity is correlated with how old the babies are when they first begin to go through the symptoms. The older the child is the least, less severe symptoms they will be. Their life expectancy is still rather short, but with proper diligent care patients can live up to their adolescence and even young adulthood.

Type III and Type IV are even less severe. Type III can show on children at the age of three and it could also show until the age of 17, whilst Type IV is for when the symptoms manifest in adulthood. These two Types are rare, but with the proper care the patient can lead a normal life span. They affect physical motor skills and the patients are prone to suffer from respiratory infections.

Global organizations, work to raise awareness on such a rare disease that on 1 per 10,000 individuals, and of which one of every 50 persons are carriers of the gene that causes the disease. The Spinal Muscular Atrophy Project has spearheaded drugs that could treat the disease and eventually find a cure, but for the time being, this is a disease that can only receive treatment for complications that arise for its patients. People who suffer from SMA have their physical abilities affected, but they maintain their mental skills unaltered.

Staying true to our mission statement, we here at DMS support the valiant quest and struggle that families with a member with SMA go through. As we strive to do our part by providing better service for them and constantly look for ways to improve. You can do your part by visiting www.globalgenes.com  and see how you can help raise SMA awareness.