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What is the life expectancy of a child with SMA?

What is the life expectancy of a child with SMA?

The life expectancy of patients with spinal muscular atrophy (SMA) type I is generally considered to be less than 2 years.

What is SMA disease symptoms?

muscle weakness and decreased muscle tone. limited mobility. breathing problems. problems eating and swallowing.

Can SMA disease be cured?

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.

What causes SMA disease?

What causes SMA? 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.

Who is the oldest person with SMA?

Steve Mikita is one of the oldest people living with SMA at 64 years old.

Does SMA run in families?

Most people have two copies of the SM1 gene – one from each parent. SMA normally only happens when both copies have the gene change. If only one copy has the change, there usually aren’t any symptoms. But that gene could be passed down from parent to child.

What does SMA look like?

The signs of SMA can vary. Some babies with SMA are “floppy” and don’t learn to roll or sit at the expected age. An older child might fall more often than kids of the same age or have trouble lifting things. Kids with SMA can develop scoliosis (a curved spine) if the back muscles are weak.

At what age is SMA diagnosed?

Affected children can typically maintain a seated position without support but are unable to walk. SMA type III is often diagnosed between 18 months and three years of age. However, some affected people may not develop muscle weakness until adolescence.

Is SMA fatal?

The prognosis varies on the form and type of SMA. Some forms are fatal without treatment. People may appear to be stable for long periods, but improvement should not be expected without treatment. Some children with SMA die in infancy while others can live into adolescence or young adulthood.

What is the best treatment for SMA?

The FDA has approved three medications to treat SMA: nusinersen (Spinraza), onasemnogene abeparvovec-xioi (Zolgensma) and risdiplam (Evrysdi). Both are forms of gene therapy that affect the genes involved in SMA.

Is SMA painful?

Spinal muscular atrophy (SMA) causes a breakdown of motor neurons, which control muscle movement. Painful symptoms that occur with SMA include immobility and scoliosis. Secondary symptoms include gastrointestinal symptoms (reflux, etc.) and orthopedic symptoms (hip dislocation, osteoporosis, etc.).