autosomal recessive limb-girdle muscular dystrophy type 2U

ORPHA: 3524791 Treatment Available

Contents

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

Overview

autosomal recessive limb-girdle muscular dystrophy that hhas material basis in homozygous mutation in the ISPD gene on chromosome 7p21

Available Treatments (1)

Drug	Form	Status	Countries	Lead Time
Deflazacort Orphan	Oral tablet, Oral suspension	FDA Approved	2	7d

Clinical Presentation

Signs and symptoms associated with autosomal recessive limb-girdle muscular dystrophy type 2U, sourced from HPO and Orphanet clinical annotations.

Limb-girdle muscle weaknessHypoglycosylation of alpha-dystroglycanMacroglossiaAbnormality of the cardiovascular systemReduced vital capacitySkeletal muscle atrophyCalf muscle pseudohypertrophyProximal lower limb muscle weaknessProximal upper limb muscle weaknessHighly elevated creatine kinaseLoss of ambulationMyalgiaScapular wingingExercise-induced myoglobinuriaAbnormality of the eyeAbnormality of mental function

Classification & Codes

Orphanet Code

ORPHA:352479

autosomal recessive limb-girdle muscular dystrophy type 2U

Orphanet	`ORPHA:352479`
Treatments	1 drug(s)
Symptoms on record	16 signs
Status	published

Treatment Summary

Deflazacort· Orphan

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO