infantile-onset X-linked spinal muscular atrophy
MeSH: C535380ORPHA: 1145
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with infantile-onset X-linked spinal muscular atrophy, sourced from HPO and Orphanet clinical annotations.
AreflexiaPoor suckDegeneration of anterior horn cellsSkeletal muscle atrophyEMG: neuropathic changesAbnormal muscle fiber morphologyAbnormal anterior horn cell morphologyHigh palateShort ribsCupped ribsInterphalangeal joint contracture of fingerMyopathic faciesRespiratory insufficiencyRespiratory distressAnarthriaArthrogryposis multiplex congenitaElbow flexion contractureHip contractureProximal muscle weaknessKnee flexion contractureAnkle flexion contractureSpinal muscular atrophyFloppy infantInflammatory myopathyBone fractureCryptorchidismGeneralized hypotoniaTongue fasciculationsPotter faciesDistal muscle weaknessAbnormal periventricular white matter morphologyKyphoscoliosisGeneralized muscle weaknessMotor polyneuropathyMildly elevated creatine kinaseWeakness of facial musculatureCognitive impairment
Classification & Codes
MeSH Code
C535380Orphanet Code
ORPHA:1145infantile-onset X-linked spinal muscular atrophy
| MeSH | C535380 |
| Orphanet | ORPHA:1145 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO