autosomal recessive limb-girdle muscular dystrophy type 2C
MeSH: C535900ORPHA: 353
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12
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 2C, sourced from HPO and Orphanet clinical annotations.
MacroglossiaRight ventricular hypertrophyBroad-based gaitFrequent fallsWaddling gaitLumbar hyperlordosisElevated circulating creatine kinase concentrationEMG: myopathic abnormalitiesUpper limb muscle weaknessDifficulty climbing stairsIncreased variability in muscle fiber diameterScapular wingingCalf muscle pseudohypertrophyEMG: myotonic runsAbnormal macrophage morphologyCalf muscle hypertrophyDifficulty runningEMG: positive sharp wavesEMG: myotonic dischargesIncreased endomysial connective tissueLong faceAchilles tendon contractureScoliosisGowers signNeck flexor weaknessLeft ventricular systolic dysfunctionTip-toe gait
Classification & Codes
MeSH Code
C535900Orphanet Code
ORPHA:353autosomal recessive limb-girdle muscular dystrophy type 2C
| MeSH | C535900 |
| Orphanet | ORPHA:353 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO