autosomal recessive limb-girdle muscular dystrophy type R1
ORPHA: 267
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15
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 R1, sourced from HPO and Orphanet clinical annotations.
Generalized muscle weaknessFlexion contractureElbow flexion contractureHamstring contracturesElevated circulating creatine kinase concentrationSpinal rigidityHyperlordosisMuscular dystrophyScapular wingingProximal muscle weaknessCongenital finger flexion contracturesAnkle flexion contractureLower limb muscle weaknessPelvic girdle amyotrophyCalf muscle hypertrophyScapular muscle atrophyPectoralis amyotrophyTip-toe gaitWrist flexion contractureDifficulty climbing stairsGait disturbance
Classification & Codes
Orphanet Code
ORPHA:267autosomal recessive limb-girdle muscular dystrophy type R1
| Orphanet | ORPHA:267 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO