Author : Dr.rajdeep agarwal, dr.v.kottrashetty dr. kapil bainade, dr. vijay b.sonawane, dr. bhavyasri kaniti
Keyword : Smn, sma,nusinersen
Subject : Pediatrics
Article Type : Case report
Article QR Code
Article File : Full Text PDF
Abstract : Spinal Muscular Atrophy is a progressive neuromuscular condition typically due to homozygous absence of the Survival Motor Neuron Gene(SMN1) .It is characterised by progressive muscle weakness that limits motor devlopment. Muscle weakness is associated with muscle atrophy and hypotonia, absence or marked decrease of deep tendon reflexes.Proximal muscles are more affected than distal muscles.Contractures and spinal deformity is common impairement. Child with SMA gradually lose function over time. Electromyelography and Nerve Conduction Velocity shows anterior horn cells abnormality. No specific medical management is available for children with SMA .Interventions are usually supportive and may include physical therapy, occupational therapy, speech therapy,nutrition , orthotic management and possible surgery .This case report is of an 4 and half month old female child with paucity of movement of lower limb since birth along with devlopmental delay.
Article by : RAJDEEP AGARWAL
Article add date : 2022-02-15
How to cite : Dr.rajdeep agarwal, dr.v.kottrashetty dr. kapil bainade, dr. vijay b.sonawane, dr. bhavyasri kaniti. (2022-February-15). Spinal motor atrophy in a floppy infant: a case report. retrieved from https://www.openacessjournal.com/abstract/1022