Spinal Muscular atrophy respiratory distress syndrome cases. Infantile respiratory failure medical care, treatment issues, No Cases has been currently described from India. Check various service nerve condition study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin binding protein.
Two cases, establish the presence of SMARD 1 in our population. both infants died on discontinuation of ventilation. Antenatal diagnoses did in one pregnancy. High index suspicion is essential in view of poor outcome and aid antenatal counseling. Check spinal muscular atrophy services.
SMARD Cases, Atrophy, autosomal recessive, diaphragmatic spinal muscular atrophy, distal spinal muscular atrophy, muscular atrophy neuronopathy cases. severe infantile axonal with respiratory failure.