Question: What Does It Mean To Be A Silent Carrier Of SMA?

Is SMA 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..

How did I become a carrier of SMA?

When SMA symptoms start in adulthood, lifespan is normal. How does one become a carrier? Since genes come from our parents, people who are carriers have received their nonworking gene from one of their parents. This means that daughters and sons of a carrier have a 50% chance of being a carrier.

How many babies are born with SMA?

One in every 6,000 babies is born with SMA. It occurs in both males and females of all races, and can begin in infancy, childhood, or adulthood, three of which affect children.

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.

How common is SMA?

Approximately one in 6,000 babies born have SMA, and about one in 40 people carry a copy of the altered gene that causes the condition (although they do not have the condition themselves). This is known as being a genetic carrier of the condition.

How much does SMA testing cost?

While a genetic test for SMA costs just under $500, more than 12,500 women would have to be screened to prevent one case of SMA, which affects only about 1 in 10,000 newborns.

Does SMA run in families?

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

Is Spinal Muscular Atrophy more common in ethnicity?

How Common Is Spinal Muscular Atrophy? In the United States, the prevalence of SMA is estimated to be between 1 in every 6000 to 10,000 individuals. The condition is found in individuals of every race and ethnic background, but it is most common among Caucasians.

Do babies with SMA move in the womb?

SMA type I is usually noted prior to birth, due to a decrease in the baby’s movements in utero, or early in life. Babies with this type of SMA have decreased muscle and trunk tone, resulting in floppiness of the limbs and weak arm and leg movements.

Is SMA tested at birth?

In California, all babies are screened for SMA in the first few days after birth. When screening finds a baby with SMA, more testing will be done to confirm the diagnosis and guide medical care.

How is spinal muscular atrophy diagnosed?

How is spinal muscular atrophy (SMA) 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 SMA curable?

There’s no cure, but treatments can improve some symptoms and, in some cases, help your child live longer. Researchers are working to find new ways to fight the disease. Keep in mind that every child or adult who has SMA will have a different experience.

How long does SMA carrier testing take?

Carriers of the abnormal gene have no symptoms of the disorder. As with most inherited disorders, the risk for being an SMA carrier varies by ethnic background2 (see table below). The screening test requires a blood sample or mouthwash and results are typically ready within 5 to 8 days.

Can you have cystic fibrosis if only one parent is a carrier?

If only one parent is a carrier of a defective CF gene, the child will not have CF. But there is a 50% (1-in-2) chance that the child will be a CF carrier. If both parents are carriers, there is a 25% (1-in-4) chance that the child will have CF, and a 50% chance that the child will be a carrier.

What does it mean to be a carrier of SMA?

A carrier is a person who inherits one healthy copy and one faulty copy of the SMN1 gene. About 1 in 40 to 1 in 60 people are carriers of SMA. If both parents are carriers, they have a 1-in-4 chance of having a child with SMA. About 1 in 6,000 to 1 in 10,000 children are born with SMA.

Do both parents have to carry the gene for SMA?

An individual must inherit two non-functioning SMA genes – one from each parent – to have symptoms of SMA. If both parents are carriers there is a one in four (25 percent) chance that both will pass on the non-functioning gene, which would result in a pregnancy affected with spinal muscular atrophy.

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 SMA 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).

What is the life expectancy of someone with SMA?

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. Type 4 is very rare. It usually starts in young adulthood, and causes mild motor impairment.

Does SMA 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).

What are the symptoms of SMA?

Symptoms of SMA may include:muscle weakness and decreased muscle tone.limited mobility.breathing problems.problems eating and swallowing.delayed gross motor skills.spontaneous tongue movements.scoliosis (curvature of the spine)