Quick Answer: What Are The Signs And Symptoms Of Spinal Muscular Atrophy?

What is the life expectancy of someone with spinal muscular atrophy?

Some may eventually need to use a wheelchair.

Symptoms usually appear around 18 months of age or in early childhood.

Children with this type of SMA generally have an almost normal life expectancy..

Is Spinal Muscular Atrophy painful?

Overall, pain in this population of SMA patients appears to be comparable to that of people with osteoarthritis or chronic low back pain. Despite SMA patients being generally protected from severe pain, younger SMA patients do experience pain at heightened rates.

Can adults get spinal muscular atrophy?

Adult SMA. Adult SMA, or SMA type 4, is rare. It begins after the age of 21 years. The person will have mild to moderate proximal weakness, which means that the condition affects the muscles closest to the center of the body.

Can Spinal Muscular Atrophy be detected pregnancy?

Yes. If both partners are carriers of SMA, prenatal testing is available. Chorionic villus sampling (CVS) at 10 to 14 weeks or amniocentesis at 16 to 20 weeks can be performed to determine if the fetus has inherited two copies of the SMA gene mutation.

Is Spinal Muscular Atrophy more common in males or females?

Males are more commonly affected with SMA than females are. The male-to-female ratio is 2:1. The clinical course in males is more severe.

Is Spinal Muscular Atrophy treatable?

It’s not currently possible to cure spinal muscular atrophy (SMA), but research is ongoing to find new treatments. Treatment and support is available to manage the symptoms and help people with the condition have the best possible quality of life.

Does SMA run in families?

SMA runs in families. Parents usually have no symptoms, but still carry the gene.

How do you get spinal muscular atrophy?

The most common form of SMA is caused by defects in both copies of the survival motor neuron 1 gene (SMN1) on chromosome 5q. This gene produces the survival motor neuron (SMN) protein which maintains the health and normal function of motor neurons.

When is spinal muscular atrophy diagnosed?

Spinal muscular atrophy is usually diagnosed through a blood test to check for the presence of the SMN1 gene (genetic testing). This gene will be missing in about 95 percent of those with SMN-related SMA. In the other 5 percent, the gene will appear mutated.

Is Spinal Muscular Atrophy genetically inherited?

Spinal muscular atrophy (SMA) is the second leading cause of neuromuscular disease. It is usually inherited as an autosomal recessive trait (a person must get the defective gene from both parents to be affected).

Can SMA be prevented?

No, SMA cannot be prevented and there is no cure.

What are signs of muscle weakness?

Muscle weakness may accompany other symptoms affecting the muscles including:Burning feeling.Frequent episodes of falling.Loss of muscle coordination.Muscle spasms.Pain.Paralysis.Pins-and-needles (prickling) sensation.Twitching.

How does spinal muscular atrophy affect the body?

Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy ) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement.

Is Spinal Muscular Atrophy a disability?

Muscular atrophy by itself rarely forms the basis for a successful disability claim. Rather, it is usually just one of many symptoms of another condition, such as ALS, a stroke, or a spinal cord injury.

Do both parents have to be carriers for spinal muscular atrophy?

Both parents must be carriers for the baby to be at risk for SMA. If your partner has a negative test result and no family history of SMA, the chance that your baby will have SMA is less than 1%.

Are you born with spinal muscular atrophy?

In some cases, babies are born with types of SMA that don’t produce noticeable symptoms until later in life. Type 3 SMA is also known as Kugelberg-Welander disease or mild SMA. It typically appears after 18 months of age.

What are the signs of muscular dystrophy in adults?

SymptomsFrequent falls.Difficulty rising from a lying or sitting position.Trouble running and jumping.Waddling gait.Walking on the toes.Large calf muscles.Muscle pain and stiffness.Learning disabilities.More items…•Jan 31, 2020

Does spinal muscular atrophy affect the brain?

In SMA, the nerves that control muscle strength and movement break down. These nerves (called motor neurons) are in the spinal cord and lower part of the brain. They can’t send signals from the brain to the muscles to make them move. Because the muscles don’t move, they get smaller (or atrophy).