autosomal recessive limb-girdle muscular dystrophy type 2H

MeSH: C535897ORPHA: 1878

Contents

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

Overview

autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q

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 2H, sourced from HPO and Orphanet clinical annotations.

Tall statureMask-like faciesGait disturbanceWaddling gaitMyopathyElevated circulating creatine kinase concentrationEMG abnormalityIncreased variability in muscle fiber diameterProximal lower limb muscle weakness

Classification & Codes

MeSH Code

C535897

Orphanet Code

ORPHA:1878

autosomal recessive limb-girdle muscular dystrophy type 2H

MeSH	`C535897`
Orphanet	`ORPHA:1878`
Treatments	0 drug(s)
Symptoms on record	9 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO