Spinal Muscular Atrophy Awareness Month
August is spinal muscular atrophy (SMA) month, so we wanted to share a little information about this genetic condition. Spinal muscular atrophy is a condition that affects the motor nerve cells in your spinal cord. This progressive condition slowly robs a person of the ability to walk, eat and even breath. According to infant care statistics, SMA is the leading genetic cause of death in infants.
SMA runs in families. Parents usually have no symptoms, but still carry the gene. Genetic counseling is important if the disease runs in your family. There are many types of SMA. Some of them are fatal. Some people have a normal life expectancy. It depends on the type and how it affects breathing. There is no cure. Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines.
The primary symptom of chromosome 5-related (SMN–related) SMA is weakness of the voluntary muscles. The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs and upper back. Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop. There’s a great deal of variation in the age of onset and level of motor function achieved in chromosome 5-related SMA. These are roughly correlated with how much functional SMN protein is present in the motor neurons, which in turn is correlated with how many SMN2 genes a person has. Sensory, mental and emotional functioning are entirely normal in chromosome-5 SMA.
There are 3 types of SMA with different degrees of severity. Type I spinal muscular atrophy (also called Werdnig-Hoffman disease) is the most severe form of the disorder that is evident at birth or within the first few months of life. Type II spinal muscular atrophy is characterized by muscle weakness that develops in children between ages 6 and 12 months. Type III spinal muscular atrophy (also called Kugelberg-Welander disease or juvenile type) has milder features that typically develop between early childhood and adolescence. The signs and symptoms of type IV spinal muscular atrophy often occur after age 30. Affected individuals usually experience mild to moderate muscle weakness, tremor, twitching, or mild breathing problems.
According to parents of children with SMA, the experience changes them forever. Their strength and courage is continuously tested out of love and devotion to their children. However, emotional and financial stress cannot be avoided. In fact, the cost of caring for a child with SMA is in between $260,000 to $3 million. This points to the importance of knowing your risks ahead of time by undergoing SMA screening before you get pregnant. There are many types of SMA. Some of them are fatal. Some people have a normal life expectancy. It depends on the type and how it affects breathing. There is no cure. Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines.