rigid spine syndrome
MeSH: C535683ORPHA: 3246041 Treatment Available
Overview
human disease
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| idebenone Orphan | oral tablet, 150 mg | EMA Approved | 9 | 21d |
Clinical Presentation
Signs and symptoms associated with rigid spine syndrome, sourced from HPO and Orphanet clinical annotations.
Muscular dystrophyHigh palateGeneralized hypotoniaFailure to thriveAbnormally high-pitched voiceRestrictive ventilatory defectDelayed gross motor developmentPoor head controlScoliosisMultiple joint contracturesNocturnal hypoventilationSpinal rigidityAxial muscle weaknessGeneralized amyotrophyShort statureIntermittent episodes of respiratory insufficiency due to muscle weaknessLimited neck flexionIncreased muscle lipid contentWeakness of facial musculatureMuscle fiber atrophyMandibular prognathiaMicroretrognathiaHip dysplasiaMitral valve prolapseCongestive heart failureRight ventricular hypertrophyRight ventricular failurePes planus
Classification & Codes
MeSH Code
C535683Orphanet Code
ORPHA:324604rigid spine syndrome
| MeSH | C535683 |
| Orphanet | ORPHA:324604 |
| Treatments | 1 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO