autosomal recessive limb-girdle muscular dystrophy type 2P
ORPHA: 280333
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21
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 2P, sourced from HPO and Orphanet clinical annotations.
Elevated circulating creatine kinase concentrationLimb-girdle muscular dystrophyReduced muscle fiber alpha dystroglycanMotor delayUnsteady gaitWaddling gaitDifficulty climbing stairsCalf muscle hypertrophySevere intellectual disabilityMild intellectual disabilityPoor speechLumbar hyperlordosisGowers signCalf muscle pseudohypertrophyAnkle flexion contracture
Classification & Codes
Orphanet Code
ORPHA:280333autosomal recessive limb-girdle muscular dystrophy type 2P
| Orphanet | ORPHA:280333 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO