Significance of Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder characterized by the progressive degeneration of spinal motor neurons, leading to muscle weakness and atrophy. It primarily affects skeletal muscles used for movement and is caused by mutations in the SMN1 gene, with variations in the SMN2 gene influencing severity. SMA is classified as an autosomal recessive disorder, often resulting in significant dependency and a reduced lifespan due to its impact on voluntary muscle control.
The below excerpts are indicatory and do represent direct quotations or translations. It is your responsibility to fact check each reference.
The concept of Spinal Muscular Atrophy in scientific sources
Spinal Muscular Atrophy (SMA) is a genetic disorder caused by the lack of the SMN1 gene, leading to motor neuron loss, muscle wasting, and reduced motor function, ultimately resulting in dependency and a shortened lifespan.
From: World Journal of Pharmaceutical Research
(1) A neurological illness characterized by loss of motor neurons leading to muscle weakness and atrophy.[1] (2) A rare inherited neurodegenerative disorder characterized by the loss of spinal motor neurons, leading to muscle weakness and control issues.[2] (3) A group of inherited genetic disorders characterized by the loss of motor neurons or anterior horn cells, leading to muscle weakness and atrophy, primarily impacting skeletal muscles used for movement.[3] (4) A progressive and degenerative inherited neuromuscular disorder characterized by the loss of spinal motor neurons, leading to muscle weakness and atrophy.[4] (5) Spinal muscular atrophy (SMA) is an autosomal recessive genetic neuromuscular disorder affecting the spinal cord's nervous system parts that control voluntary muscle movements.[5]
From: Journal of Ayurveda and Holistic Medicine
(1) A set of autosomal recessive disorder characterized by progressive muscle atrophy and motor neuron loss, often resulting in dependency and shortened life span.[6]
From: International Ayurvedic Medical Journal
(1) Spinal Muscular Atrophy (SMA) is a leading genetic disorder caused by the absence of the SMN 1 gene, characterized by the loss of motor neurons, muscle wasting, and reduced motor function.[7]