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autosomal recessive limb-girdle muscular dystrophy type 2E

ORPHA: 119

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12

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 2E, sourced from HPO and Orphanet clinical annotations.

Delayed speech and language developmentMyopathic faciesBroad-based gaitWaddling gaitMyopathyElevated circulating creatine kinase concentrationGowers signIncreased variability in muscle fiber diameterPelvic girdle muscle weaknessCalf muscle hypertrophyCardiomyopathyMyoglobinuriaGait disturbance

Classification & Codes

Orphanet Code

ORPHA:119
autosomal recessive limb-girdle muscular dystrophy type 2E
OrphanetORPHA:119
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
autosomal recessive limb-girdle muscular dystrophy type 2E | OrphanDrug