Spinal muscular atrophy is a group of inherited diseases that cause muscle damage and weakness, which get worse over time and eventually lead to death.
Spinal muscular atrophy (SMA) is a collection of different muscle diseases. Grouped together, it is the second leading cause of neuromuscular disease, after Duchenne muscular dystrophy.
Most of the time, a person must get the defective gene from both parents to be affected. About 4 out of every 100,000 people have the condition.
The most severe form is SMA type I, also called Werdnig-Hoffman disease. Infants with SMA type II have less severe symptoms during early infancy, but they become weaker with time. SMA type III is the least severe form of the disease.
Rarely, SMA may begin in adulthood. This is usually a milder form of the disease.
A family history of spinal muscular atrophy is a risk factor for all types of the disorder.
Often, weakness is first felt in the shoulder and leg muscles. Weakness gets worse over time and eventually becomes severe.
Symptoms in an infant:
Symptoms in a child:
The health care provider will take a careful history and perform a brain/nervous system (neurologic) examination to find out if there is:
There is no treatment for the weakness caused by the disease. Supportive care is important. Attention must be paid to the respiratory system because affected people have trouble protecting themselves from choking. Breathing complications are common.
Physical therapy is important to prevent contractions of muscles and tendons and abnormal curvature of the spine (scoliosis). Bracing may be needed.
People with SMA type I rarely live longer than 2 - 3 years because of respiratory problems and infections. Survival time with type II is longer, but the disease kills most of those who are affected while they are still children.
Children with type III disease may survive into early adulthood. However, people with all forms of the disease have weakness and debility that gets worse over time.
Call your health care provider if your child:
Breathing difficulty can rapidly become an emergency condition.
Genetic counseling is recommended for people with a family history of spinal muscular atrophy who want to have children.
Sarnat HB. Spinal muscular atrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Elsevier; 2011:chap 604.2.