This article provides a clear overview of spinal muscular atrophy, covering its causes, symptoms, and inheritance pattern. It explains how SMA affects muscles and nerve functions, highlighting the importance of early diagnosis. Suitable for general readers seeking basic medical knowledge about SMA.

Comprehensive Overview of Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a genetic condition that primarily affects the nerves controlling voluntary muscle movements. When nerve signals are disrupted, muscles weaken and shrink, leading to muscle loss. The severity varies by age; infants often face severe weakness, while older individuals may retain more mobility.

SMA results mainly from mutations in the SMN1 gene, causing reduced levels of the survival motor neuron (SMN) protein essential for nerve function. It predominantly impacts muscles near the center of the body, such as shoulders and hips, leading to spinal issues, swallowing challenges, and breathing difficulties. Sensory and cognitive functions typically remain unaffected.

SMA is classified into types 1 through 4, based on age of onset and motor skills. Type 1 appears in infants, while types 2-4 affect older children and adults. It is inherited when both SMN1 gene copies carry mutations, though some cases arise from new mutations during reproductive cell formation or early development.

Disclaimer:

This article aims to educate about SMA symptoms, causes, and inheritance. It is not medical advice. Consult healthcare professionals for diagnosis and treatment options.