All you need to know about: Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is a rare genetic neuromuscular disorder caused by the loss of motor neurons. The article explains the genetic basis of the disease, its classification into five types, and the importance of early intervention.
Why it matters
Understanding the genetic markers and symptoms of SMA is vital for early diagnosis and improving the quality of life for affected infants and adults.
Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder characterised by the progressive loss of lower motor neurons -- specialised nerve cells in the spinal cord and brainstem that control voluntary muscle movement. As these nerve cells degenerate, muscles gradually become weak and waste away (atrophy), affecting activities such as sitting, standing, walking, swallowing and, in severe cases, breathing.
SMA is estimated to affect one to two people per 1,00,000 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. The estimated incidence among Asian Indians is one in 9,655 live births, while the carrier frequency is one in 71 people.
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