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.
Causes, incidence, and risk factors
Spinal muscular atrophy (SMA) is a collection of different muscle diseases. Grouped together, it is the second leading cause of neuromuscular disease, after
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.
- Infants with SMA type I are born with very little muscle tone, weak muscles, and feeding and breathing problems.
- With SMA type II, symptoms may not appear until age 6 months to 2 years.
- Type III SMA is a milder disease that starts in childhood or adolescence and slowly gets worse.
- Type IV is even milder, with weakness starting in adulthood.
Symptoms in an infant:
- Breathing difficulty, leading to a lack of oxygen
- Feeding difficulty (food may go into the windpipe instead of the stomach)
- Floppy infant (poor muscle tone)
- Lack of head control
- Little movement
- Weakness that gets worse
Symptoms in a child:
- Frequent, increasingly severe respiratory infections
- Nasal speech
- Posture that gets worse
Signs and tests
The health care provider will take a careful history and perform a brain/nervous system (neurologic) examination to find out if there is:
- A family history of neuromuscular disease
- Floppy (flaccid) muscles
- No deep tendon reflexes
- Twitches (
muscle fasciculation) of the tongue muscle
Aldolase Erythrocyte sedimentation rate(ESR) CPKlevels
- DNA testing to confirm diagnosis
MRI of the spine Muscle biopsy Nerve conduction
- Serum amino acids
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.
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.
(food and fluids get into the lungs, causing pneumonia)
- Contractions of muscles and tendons
- Heart failure
Calling your health care provider
Call your health care provider if your child:
Develops any other symptoms of spinal muscular atrophy
Has difficulty feeding
Genetic counseling is recommended for people with a family history of spinal muscular atrophy who want to have children.