autosomal recessive limb-girdle muscular dystrophy type 2T
ORPHA: 363623
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21
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 2T, sourced from HPO and Orphanet clinical annotations.
HypotoniaGlobal developmental delayElevated circulating creatine kinase concentrationDifficulty climbing stairsMicrocephalyNeck muscle weaknessCataractNystagmusMuscle weaknessCardiomyopathyRespiratory insufficiencyAxial muscle weaknessEasy fatigabilityMuscle spasmEMG: decremental response of compound muscle action potential to repetitive nerve stimulationExercise intoleranceDilatation of the ventricular cavityLower limb muscle weaknessDistal upper limb muscle weaknessProximal upper limb muscle weaknessDistal lower limb muscle weaknessFatigable weakness of bulbar musclesCognitive impairmentIntellectual disabilitySeizure
Classification & Codes
Orphanet Code
ORPHA:363623autosomal recessive limb-girdle muscular dystrophy type 2T
| Orphanet | ORPHA:363623 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO