autosomal recessive limb-girdle muscular dystrophy type 2L
MeSH: C566968ORPHA: 206549
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14
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 2L, sourced from HPO and Orphanet clinical annotations.
CardiomyopathyMyoglobinuriaElbow flexion contractureHamstring contracturesScapular wingingAnkle flexion contractureCalf muscle hypertrophyUpper limb amyotrophyFacial palsyFlexion contracture of fingerMyalgiaLimb-girdle muscular dystrophyProximal lower limb muscle weaknessDistal lower limb muscle weaknessAbnormal calf musculature morphologyGenu recurvatumElevated circulating creatine kinase concentrationEMG: neuropathic changesEMG: myopathic abnormalitiesEMG: axonal abnormalityMuscle fiber splittingIncreased variability in muscle fiber diameterEMG: myotonic runsExercise-induced myalgiaAbnormal muscle fiber morphologyLower limb amyotrophyPelvic girdle muscle atrophyProximal upper limb muscle weaknessQuadriceps muscle atrophyFatty replacement of skeletal muscleInternally nucleated skeletal muscle fibersMuscle fiber atrophyIncreased endomysial connective tissueWrist flexion contractureFlexion contracture
Classification & Codes
MeSH Code
C566968Orphanet Code
ORPHA:206549autosomal recessive limb-girdle muscular dystrophy type 2L
| MeSH | C566968 |
| Orphanet | ORPHA:206549 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO