Bethlem myopathy
ORPHA: 610
Overview
human disease
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 Bethlem myopathy, sourced from HPO and Orphanet clinical annotations.
Muscle weaknessFlexion contractureEMG: myopathic abnormalitiesMuscular dystrophyProgressive proximal muscle weaknessReduced muscle collagen VINeck muscle weaknessInterphalangeal joint contracture of fingerWrist flexion contractureGait disturbanceDistal muscle weaknessMultiple joint contracturesElevated circulating creatine kinase concentrationLimb-girdle muscle weaknessQuadriceps muscle weaknessAnkle flexion contractureIncreased muscle lipid contentCamptodactyly of fingerHyperkeratosisCigarette-paper scarsJoint hypermobilityAchilles tendon contractureAbnormality of the respiratory systemWaddling gaitScoliosisHypoventilationLumbar hyperlordosisElbow flexion contractureSpinal rigidityAxial muscle weaknessGowers signScapular wingingGeneralized amyotrophyRimmed vacuolesFoot dorsiflexor weaknessCurved toe phalanxReduced maximal expiratory pressureKeratosis pilaris
Classification & Codes
Orphanet Code
ORPHA:610Bethlem myopathy
| Orphanet | ORPHA:610 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO