autosomal recessive limb-girdle muscular dystrophy type 2Q
ORPHA: 254361
Overview
autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the PLEC1 gene
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 2Q, sourced from HPO and Orphanet clinical annotations.
Frequent fallsLoss of ambulationSkeletal muscle atrophyElevated circulating creatine kinase concentrationLimb-girdle muscle weaknessGowers signEMG: myopathic abnormalitiesDifficulty climbing stairsPelvic girdle muscle weaknessAxial muscle atrophyGlobal developmental delayAreflexiaBilateral ptosisHypernasal speechAchilles tendon contractureDysphagiaDelayed gross motor developmentGeneralized muscle weaknessCalf muscle hypertrophyProgressive proximal muscle weaknessMotor delayDistal lower limb muscle weaknessIncreased circulating lactate dehydrogenase concentrationProximal upper limb muscle hypertrophyBilateral facial palsyAbnormality of the cardiovascular systemAbnormality of the respiratory systemPulmonary fibrosisExertional dyspneaDecreased cervical spine flexion due to contractures of posterior cervical musclesComplete right bundle branch blockBronchiolitisAtelectasis
Classification & Codes
Orphanet Code
ORPHA:254361autosomal recessive limb-girdle muscular dystrophy type 2Q
| Orphanet | ORPHA:254361 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO