What is the treatment for spinal muscular atrophy?

What is the treatment for spinal muscular atrophy?

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.

What is spinal atrophy?

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.

What are the symptoms of spinal muscular atrophy?

What are the symptoms of spinal muscular atrophy?

  • 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)

What is the life expectancy of a child with SMA?

SMA Type 1 is a life-limiting condition. Though it is not possible to accurately predict, for the majority of children (approximately 95%) life expectancy is less than 18 months unless pharmacological treatment is introduced.

Is SMA type 1 curable?

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.

Is SMA always fatal?

Prognosis varies depending on the type of SMA. Some forms of SMA are fatal without treatment. People with SMA may appear to be stable for long periods, but improvement should not be expected without treatment.

Is muscular atrophy fatal?

The prognosis varies depending on the type of spinal muscular atrophy. Some forms of spinal muscular atrophy are fatal. The course of Kennedy’s disease varies but is generally slowly progressive. Individuals tend to remain ambulatory until late in the disease.

How long is the average lifespan of a person with spinal muscular atrophy?

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

How is atrophy diagnosed?

genetic blood tests, which can confirm the diagnosis of SMA. an electromyography (EMG) test that measures the electrical activity of a muscle or a group of muscles (in some cases) a creatine kinase (CPK) test (to distinguish from other types of neuromuscular diseases, if necessary)