What causes Type 4 spinal muscular atrophy?
Along with the other four main types of SMA, which are far more common, type 4 is caused by mutations in both copies of the SMN1 gene — one inherited from the mother and one from the father. That gene provides instructions to produce SMN, a protein essential for motor neuron and muscle health.
What is one of the leading causes of death in people with SMA 2?
In type II SMA, the age of death varies, but death is most often due to respiratory complications.
What is the genetic cause of SMA?
Causes. SMA is caused by deletion or mutation in the SMN1 gene, which encodes a protein known as survival motor neuron (SMN). This protein plays an important role in the functioning and maintenance of motor neurons.
How rare is sma1?
Approximately 10,000 to 25,000 children and adults are living with SMA in the United States. It’s a rare disease that affects one out of 6,000 to 10,000 children.
What are signs 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)
Is SMA disease fatal?
What is the prognosis? 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.
How long do people live with muscular atrophy?
The life expectancy of patients with spinal muscular atrophy (SMA) type I is generally considered to be less than 2 years. Recently, with the introduction of proactive treatments, a longer survival and an improved survival rate have been reported.
Is Spinraza an orphan drug?
In 2016, the Food and Drug Administration (FDA) approved Spinraza to treat SMA, granting it orphan drug status . The FDA gives this status to medications that are prescribed for rare conditions, such as SMA.
Is Spinraza a biologic?
CAMBRIDGE, Mass. –(BUSINESS WIRE)–The U.S. Food and Drug Administration (FDA) approved Biogen’s (NASDAQ: BIIB) SPINRAZA™ (nusinersen) under Priority Review for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients.