A review on spinal muscular atrophy - a fetal autosomal neurotransmitter recessive disorder

Abstract

Spinal muscular atrophy (SMA) is the degradation of anterior horn cell which prevent the motor signal to travel throughout skeletal muscle, hence resulting in degradation of spinal motor neuron leading to muscle weakness and atrophy. This genetic disorder is caused by the production of SMN2 gene when SMN1 gene is mutated, which is less effective to produced SMN protein essential for motor neuron functioning. Symptoms depend on the severity and types of disease. In infants they can manifest as progressive muscle weakness, difficulties in respiratory system, breathing, swallowing and motor impairment. Genetic testing is done through blood and saliva for diagnosis purpose. Creatinine kinase, nerve conduction studies, EMG, muscle biopsy are the additional tests. The most recent medicine to be licensed for use in the treatment is Nusinersen of Spinraza, administering through lumber puncture. This antisense oligonucleotide medication targets the backup gene SMN2 to produce and synthesize full-length SMN protein.