autosomal recessive limb-girdle muscular dystrophy type 2I
MeSH: C564612ORPHA: 34515
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3
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 2I, sourced from HPO and Orphanet clinical annotations.
Elevated circulating creatine kinase concentrationMuscular dystrophyProximal muscle weaknessReduced muscle fiber alpha dystroglycanGeneralized hypotoniaWaddling gaitShoulder girdle muscle weaknessPelvic girdle muscle weaknessAbnormal Achilles tendon morphologyCalf muscle hypertrophyMotor delayDilated cardiomyopathyFrequent fallsScoliosisDifficulty climbing stairsDifficulty runningReduced muscle fiber merosin
Classification & Codes
MeSH Code
C564612Orphanet Code
ORPHA:34515autosomal recessive limb-girdle muscular dystrophy type 2I
| MeSH | C564612 |
| Orphanet | ORPHA:34515 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO