Spinal muscular atrophy is a genetic disease that affects approximately 1 in 8 thousand people. In order for a baby to contract this muscle disease, both parents must carry the gene. This disease presents itself in four distinct types. Type one being the most severe. Babies born with type one have only a two to three year life expectancy. An infant who is affected with this disease may present with breathing and feeding difficulties. They may appear weak with no muscle control. As the condition progresses respiratory problems may be the main cause of death. This disease is also called Werdnig-Hoffman disease and can appear between birth and six months old. These children may never be able to sit or hold up their heads without support.
Type two is a less severe form of muscular atrophy and will make itself known between seven and 18 months of age. Parents of children with this form may notice that their child appears weak , lacks muscle tone and gets many respiratory infections. They may develop scoliosis and may have trouble breathing and are prone to choking. These children may eventually be able to sit up or stand unaided. Life expectancy is longer than that of those affected by type one, however they will expire while they are still children.
Type three is a milder type than type one or two and children affected with this type may live into their early adulthood. Some will eventually require a wheelchair and lose most of their muscle tone. Again problems with respiratory infections and choking are the main hazards with this type of muscle atrophy. Most children are diagnosed with this type after the age of eighteen months, however it may not appear until as late as the teenage years. With proper diagnosis and treatment many of those affected with type three can live near normal lifespans
Type four begins after the age of thirty five. This adult form of the disease is the most benign form of SMA and many people who develop this disease will go on to live normal lifespans. The treatment plans for all four types of the disease depend on what symptoms are most bothersome to the individual, however physical therapy, respiratory therapy and medications can all be beneficial for all four types of this devastating disease.
Research is ongoing and scientist hope to gain knowledge from those suffering from less severe types of the disease. Hopefully this research will give insight to the more severely affected children and bring about the cure everyone is seeking. Until then people with a family history of this disease need to get genetic counseling before they begin a family. Knowledge about this disease can be the best force in the search for a cure. Because one in every forty people carry this gene, it is important that the public becomes aware that this disease is a possibility for their offspring. If the public realized that 7.5 million Americans are carriers of the gene that can cause this disabling disease there may be more people willing to help support the charities raising money for a cure.
