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autosomal recessive limb-girdle muscular dystrophy type 2D

ORPHA: 62

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 alpha-sarcoglycan gene (SGCA; 600119) on chromosome 17q

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 2D, sourced from HPO and Orphanet clinical annotations.

Achilles tendon contractureFrequent fallsWaddling gaitElevated circulating creatine kinase concentrationHyperlordosisGowers signDifficulty climbing stairsMuscular dystrophyScapular wingingProximal muscle weaknessCalf muscle pseudohypertrophyLimited shoulder movementTip-toe gaitThoracic scoliosis

Classification & Codes

Orphanet Code

ORPHA:62
autosomal recessive limb-girdle muscular dystrophy type 2D
OrphanetORPHA:62
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
autosomal recessive limb-girdle muscular dystrophy type 2D | OrphanDrug