MeSH Browser

MeSH Supplementary: Spinal muscular atrophy with respiratory distress 1
Unique ID: C536880
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536880
Entry Term(s): Autosomal Recessive Distal Spinal Muscular Atrophy 1; Dhmn6; Diaphragmatic Spinal Muscular Atrophy; Distal Hereditary Motor Neuronopathy Type Vi; Distal Spinal Muscular Atrophy Type 1; Dsma1; Hmn6; Hmnvi; Neuronopathy, Distal Hereditary Motor, Type VI; Neuronopathy, Severe Infantile Axonal, With Respiratory Failure; Severe Infantile Axonal Neuropathy With Respiratory Failure; Sianrf; Smard1; Spinal Muscular Atrophy with Respiratory Distress; Spinal Muscular Atrophy with Respiratory Distress Type 1; Spinal Muscular Atrophy, Diaphragmatic; Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Registry Number: 0
Heading Mapped to: *Muscular Atrophy, Spinal; *Respiratory Distress Syndrome, Newborn
Frequency: 44
Note: A hereditary autosomal recessive form of infantile spinal muscular atrophy characterized by severe respiratory distress resulting from diaphragmatic paralysis resulting in respiratory failure between 6 weeks and 6 months, DIAPHRAGMATIC EVENTRATION shown on chest x-ray or PREMATURE BIRTH, and predominant involvement of the upper limbs and distal muscles. Mutations in the IGHMBP2 gene have been identified. OMIM: 604320
Date of Entry: 2010/08/25
Revision Date: 2015/11/10

Spinal muscular atrophy with respiratory distress 1 MeSH Supplementary Concept Data 2024