All you need to know about: Spinal Muscular Atrophy
Spinal muscular atrophy is a rare inherited neuromuscular disorder caused by changes in the SMN1 gene. It leads to progressive muscle weakness by affecting the nerve cells that control voluntary movement
Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder that leads to the progressive loss of lower motor neurons, resulting in muscle weakness and wasting. This condition affects one to two people per 100,000 population, with a birth incidence of one in 6,000 to one in 10,000 live births, making it one of the most common inherited neuromuscular disorders in infancy.
SMA is caused by changes in the SMN1 gene, which is essential for motor neuron survival, with around 95% of people with the common form of SMA (5q SMA) having a homozygous deletion involving exon 7 of the SMN1 gene. The severity of SMA is influenced by the number of copies of the SMN2 gene, which produces small amounts of the same protein.
The disease is classified into Types 0, 1, 2, 3, and 4 based on the age at symptom onset and the highest motor milestone achieved, with Type 1 being the most common form.
Brief written by urgent.news from The Hindu Health's own syndicated text. Machine-written — may contain errors; check the original before relying on it.
