What type of disease is spinal muscular atrophy?
What type of disease is spinal muscular atrophy?
Spinal muscular atrophy (SMA) is a genetic (inherited) neuromuscular disease that causes muscles to become weak and waste away. People with SMA lose a specific type of nerve cell in the spinal cord (called motor neurons) that control muscle movement.
Can Spinal Muscular Atrophy be treated?
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.
How long do SMA patients live?
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.
What causes the disorder spinal muscular atrophy?
SMA Causes and Risk Factors Spinal muscle atrophy is a genetic disorder. Most forms of SMA are caused by mutations of the survival motor neuron 1 gene (SMN1) on the fifth chromosome, resulting in insufficient expression levels of the SMN protein.
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.
What is SMA disease symptoms?
muscle weakness and decreased muscle tone. limited mobility. breathing problems. problems eating and swallowing.
Is SMA 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 is SMA diagnosed?
How is SMA diagnosed? A blood test is available to look for deletions or mutations of the SMN1 gene. This test identifies at least 95 percent of SMA Types I, II, and III and may also reveal if a person is a carrier of a defective gene that could be passed on to children.
Who is at risk for SMA?
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.
How do you prevent SMA?
There is currently no cure for SMA and no way to prevent it, as it is an inherited condition. However, treatment can help a person live a full life.
Is SMA serious?
SMA type 1, or Werdnig-Hoffmann disease, is a serious condition that usually appears before the age of 6 months. A child may be born with breathing problems, which can be fatal within a year without treatment.
How do you get tested for SMA?
Carrier testing is available through a simple blood test. The test can detect the most common mutation that is associated with SMA and will detect approximately 90 percent of carriers. A negative carrier test will greatly reduce the likelihood of having a child affected with this condition.
How long do people with spinal muscular atrophy live?
Spinal Muscular Atrophy Life Expectancy. In extremely severe cases, the life expectancy ranges from six months to five years. Moderate cases of the disease have a life expectancy of 20 years to 30 years. Patients suffering from types II and III SMA generally have normal life expectancy.
What is Spinal muscular?
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 is progressive spinal atrophy?
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a neurological condition that causes muscle weakness and wasting (atrophy) and a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy).
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