Ullrich congenital muscular dystrophy
ORPHA: 75840
Overview
Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence
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 Ullrich congenital muscular dystrophy, sourced from HPO and Orphanet clinical annotations.
Abnormal palate morphologyGeneralized hypotoniaFlexion contractureKyphosisElevated circulating creatine kinase concentrationSpinal rigidityGeneralized muscle weaknessEMG: myopathic abnormalitiesIncreased variability in muscle fiber diameterAbnormal muscle fiber morphologyWrist hypermobilityIncreased laxity of fingersIncreased endomysial connective tissueMicrognathiaShort neckTorticollisEsotropiaAdducted thumbSlender fingerMuscle weaknessDecreased fetal movementFrequent fallsScoliosisHip dislocationRespiratory failureElbow flexion contractureGeneralized amyotrophyKnee flexion contracturePes valgusDiaphragmatic weaknessLong toe
Classification & Codes
Orphanet Code
ORPHA:75840Ullrich congenital muscular dystrophy
| Orphanet | ORPHA:75840 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO