What is Type 2 SMA?

What is Type 2 SMA?

Spinal muscular atrophy type 2 (SMA2) is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, progressive muscle weakness develops in babies with SMA2 between ages 6 and 12 months.

What is the life expectancy of a child with SMA type 2?

Type 2 is an intermediate form of SMA. Children with this type may sit without support at some point but cannot walk on their own. Symptoms typically start between 6 and 18 months of age. Depending on the severity of symptoms, children with type 2 may have a normal life span.

Is SMA type 2 rare?

Type 2 is an intermediate form of spinal muscular atrophy (SMA), a rare genetic disease characterized by the progressive loss of motor neurons, or the nerve cells that control voluntary movement, which leads to muscle weakness and wasting. This type of SMA usually is detected in infancy.

Can spinal muscular atrophy type 2 be cured?

There's currently no cure for SMA, but the Food and Drug Administration (FDA) has recently approved several new treatments for both type 1 and type 2 SMA, including innovative gene therapies, with many more potential treatments on the horizon.

How is SMA type 2 diagnosed?

A doctor will diagnose SMA Type 2 after taking a medical history, physically examining your child, and by taking a blood sample for DNA testing. The blood sample is tested for a deletion mutation in the survival motor neurone 1 (SMN1) gene on chromosome 5.

Is SMA Type 1 hereditary?

This form is dominantly inherited, meaning that only one DYNC1H1 gene mutation, inherited from one parent, is sufficient to cause the disease.

Can SMA be cured completely?

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.

Do both parents have to have 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.

How long can you live with SMA?

Life expectancy Most children with type 1 SMA will only live a few years. However, people who've been treated with new SMA drugs have seen promising improvements in their quality of life — and life expectancy. Children with other types of SMA can survive long into adulthood and live healthy, fulfilling lives.

Can babies with SMA crawl?

SMA can affect a child's ability to crawl, walk, sit up, and control head movements. Severe SMA can damage the muscles used for breathing and swallowing.

Is SMA type 1 curable?

Currently, no cure exists for SMA, but three disease-modifying therapies have become available since 2016 that have the potential to slow or even prevent progression of the main types of the disease.

What is the life expectancy of someone with SMA?

Outlook / Prognosis Infants with type 1 SMA usually die before their second birthday. Children with type 2 or type 3 SMA may live full lives depending on the severity of symptoms. People who develop SMA during adulthood (type 4) often remain active and enjoy a normal life expectancy.

Can you recover from SMA?

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.

Can you have kids if you have SMA?

Unlike a genetic disease such as Down syndrome, age has nothing to do with whether you could have a baby with SMA. Couples of all ages can be SMA carriers and have a baby with SMA.

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 do you know if a baby has SMA?

Children who have noticeable SMA symptoms at or shortly after birth usually are very weak; have difficulty breathing, sucking, and swallowing; and never reach the developmental milestone of being able to sit on their own (SMA type 1 or Werdnig-Hoffmann disease).

Is SMA curable?

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.