autosomal recessive distal spinal muscular atrophy 1
Findings
No curated finding names autosomal recessive distal spinal muscular atrophy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
Definition from the Mondo Disease Ontology (MONDO:0011436), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Diaphragmatic eventrationHPOHP:0009110
- 11 of 11 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 11 of 11 reported patients
- Talipes equinovarusHPOHP:0001762
- 1 of 11 reported patients
- Spinal muscular atrophyHPOHP:0007269
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IGHMBP2HGNC:5542
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
15 names
Resolves to: autosomal recessive distal spinal muscular atrophy 1
- Also called
- autosomal recessive distal spinal muscular atrophy type 1autosomal recessive spinal muscular atrophy with respiratory distressdHMN6diaphragmatic spinal muscular atrophydistal hereditary motor neuropathy type 6distal-HMN type 6DSMA1IGHMBP2 spinal muscular atrophysevere infantile axonal neuropathy with respiratory failure type 1SIANRFSMARD1spinal muscular atrophy caused by mutation in IGHMBP2Spinal Muscular Atrophy with Respiratory Distressspinal muscular atrophy with respiratory distress type 1spinal muscular atrophy, distal, autosomal recessive, type 1