Spinal muscular atrophy: A comprehensive case report

VARSHINI MALLAMPATI *

Department of Pharmacy Practice, Chalapathi institute of pharmaceutical sciences, Guntur, Andhra Pradesh, India.
 
Research Article
World Journal of Biology Pharmacy and Health Sciences, 2024, 18(01), 196–197.
Article DOI: 10.30574/wjbphs.2024.18.1.0188
 
Publication history: 
Received on 28 February 2024; revised on 08 April 2024; accepted on 11 April 2024
 
Abstract: 
Muscle Weakness and Atrophy, Hypotonia, Progressive Degeneration, Motor Function Impairment are hallmarks of Spinal Muscular Atrophy, a neuromuscular genetically inherited disorder that causes muscle weakness and wasting usually diagnosed in infancy or early childhood and rarely identified in adults. The genetic components of the disease are inherited, meaning that the afflicted individual receives the gene from a parent with the same genetic makeup. It is inherited in an autosomal-recessive manner. The survival motor neuron gene 1 (SMN1) is the gene responsible for the most prevalent kind of SMA. A patient with Spinal Muscular Atrophy is described, associated their clinical with and genetic features.
 
Keywords: 
Spinal Muscular Atrophy (SMA); Supportive therapy; Survival motor neuron (SMN); Muscle Weakness; Atrophy; Progressive Degeneration
 
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