August is the month that those with Spinal Muscle Atrophy (SMA) and their families and friends raise awareness. This rare, inherited disease is as common as Lou Gehrig’s disease, but is still a baby as to what researchers know about it. The care for SMA is about treating the symptoms, but with ongoing clinical trials, there are hopes that the cure is on the horizon.
SMA is “the number one genetic killer of infants and toddlers” per the SMA Foundation. SMA is the absence of a gene that makes sure motor neurons survive. If the gene doesn’t exist, a person lacks muscle control and movement ability, mostly in the trunk and neck. The muscles progressively weaken then waste away. If this occurs during a period of rapid growth, there is a higher demand on already weakened muscles and an increase in bone and spinal deformities. What results is frequent respiratory illnesses and possible lung collapse, need for nutritional and possible respiratory support, and higher demand for exercise to keep the muscles active. They may need aggressive intervention such as tracheostomy, home oxygen supply, a gastrostomy or nasogastric feeding tube, or frequent physical and occupational therapy. Families are highly encouraged to know CPR and have an emergency plan in how to deal with emergent situations.
The age of onset of symptoms determines the severity and prognosis of the disease. With Type I, there is extremely limited movement and is found while in the infant stage of life. There is almost certain death by age of 2 because the diaphragm lacks strength to aid breathing. Type II is found around toddler stage when the baby is not showing signs that they will reach the walking milestone. There is a good chance of survival until adulthood though there will be physical impairments and frequent therapy. Type III is the mildest form with normal life expectancy. Difficulty walking and mild weakness may be the only symptoms that present themselves. The forth type is the rarest form of SMA as it emerges after the age of 35 years old and has the slowest progression of disease.
The SMA Foundation is highly involved with finding a cure through research, clinical trials, and raising funds. Over the past 15 years, there has been some amazing discoveries that the foundation has assisted in. Through various studies, they have identified the absent gene linked to SMA and what the lack of this protein does to the body. They use experimentation on mice to help understand the disease and find safe therapies. Numerous patient advocacy groups and government backing help financially and through awareness. The International Coordinating Committee for SMA trials was created to broaden this research to become a worldwide effort. The group is hoping through all of its activity that the cure is within reach.
If you or someone you know has a loved one recently diagnosed with Spinal Muscle Atrophy, there are a few experts in the field that can help. Clinics in the Detroit area can be found through the Muscular Dystrophy Association. Also, there are clinical trials available through the U.S. National Institutes of Health. As always, check with your pediatrician before pursuing any trials to get their opinion on what is best for your child.