Catalog

Infantile spinal muscular atrophy with respiratory distress type 1

No MMS code

Link to WHO Definition

Infantile spinal muscular atrophy with respiratory distress type 1 – http://id.who.int/icd/entity/368492087

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a disorder that causes muscle weakness and respiratory failure. Onset of symptoms is typically in early infancy with respiratory difficulties and stridor, feeding difficulties and weak cry. Respiratory failure usually develops between 1 and 6 months of age secondary to diaphragmatic weakness. Progressive distal limb weakness follows. Sensory and autonomic nerves are also affected. SMARD1 is caused by homozygous mutations in the gene encoding the immunoglobulin micro-binding protein 2 (IGHMBP2, 11q13.3).