autosomal recessive limb-girdle muscular dystrophy type 2N
ORPHA: 206559
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3
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 2N, sourced from HPO and Orphanet clinical annotations.
Elevated circulating creatine kinase concentrationLimb-girdle muscular dystrophyReduced muscle fiber alpha dystroglycanGait disturbanceSpecific learning disabilityDelayed gross motor developmentDifficulty climbing stairsProximal amyotrophyFatigable weakness of skeletal musclesCognitive impairmentGlobal developmental delayDilated cardiomyopathyVentriculomegalyInability to walkScapular wingingScapuloperoneal amyotrophyFrontal cortical atrophyCalf muscle hypertrophyComplete right bundle branch blockLeft ventricular systolic dysfunction
Classification & Codes
Orphanet Code
ORPHA:206559autosomal recessive limb-girdle muscular dystrophy type 2N
| Orphanet | ORPHA:206559 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO