autosomal recessive limb-girdle muscular dystrophy type 2B
ORPHA: 268
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13
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 autosomal recessive limb-girdle muscular dystrophy type 2B, sourced from HPO and Orphanet clinical annotations.
Elevated circulating creatine kinase concentrationLower limb muscle weaknessProximal lower limb muscle weaknessReduced tendon reflexesCardiomegalyRight ventricular hypertrophyPes cavusAbnormal EKGHyperlordosisDifficulty climbing stairsScapular wingingNeck flexor weaknessCalf muscle hypertrophyProximal upper limb muscle weaknessDifficulty runningComplete right bundle branch blockReduced left ventricular ejection fractionMuscular edemaDysphagiaChoreaInability to walkLimited elbow movementSpinal rigidityLimited knee flexion/extensionLimited hip movementDistal upper limb muscle weaknessTip-toe gaitBrachial plexus neuropathyPollakisuria
Classification & Codes
Orphanet Code
ORPHA:268autosomal recessive limb-girdle muscular dystrophy type 2B
| Orphanet | ORPHA:268 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO