Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Congenital hypotonia
Always present (100%)HP:0001319
Eventration of the diaphragm
Always present (100%)HP:0009110
Fetal foot inversion
Occasional (5-29%)HP:0001762
Axonal degeneration
HP:0040078
Birth weight less than 10th percentile
HP:0001518
Decreased nerve conduction velocity
HP:0000762
Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord
HP:0002398
Denervation of the diaphragm
HP:0009109
Diminished diaphragmatic motion
HP:0009113
Distal muscle atrophy, upper and lower limbs
HP:0003693
Dyschezia
HP:0002019
EMG: neuropathic changes
HP:0003445
Hyporeflexia
HP:0001265
Inspiratory stridor
HP:0005348
Intrauterine growth retardation, IUGR
HP:0001511
Less than 10 fetal movements in 12 hours
HP:0001558
Limb muscle weakness
HP:0003690
Paralysed diaphragm
HP:0006597
Peripheral axonal degeneration
HP:0000764
Postnatal failure to thrive
HP:0001508
Premature birth
HP:0001622
Profuse sweating
HP:0000975
Proximal interphalangeal finger joint contractures
HP:0100490
Respiratory failure
HP:0002878
Spinal muscle wasting
HP:0007269
Tachypnea
HP:0002789
Urinary incontinence
HP:0000020
Ventilator dependence with inability to wean
HP:0005946
Weak cry
HP:0001612
Weakness of outermost muscles
HP:0002460
Related Conditions
Quick Facts
- SNOMED CT
- 711483003
- UMLS CUI
- C1858517
- Fully Specified Name
- Spinal muscular atrophy with respiratory distress type 1 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.