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autosomal dominant limb-girdle muscular dystrophy type 1E

ORPHA: 34516

Contents

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

Overview

autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36

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 dominant limb-girdle muscular dystrophy type 1E, sourced from HPO and Orphanet clinical annotations.

Generalized muscle weaknessDysarthriaDysphagiaDifficulty climbing stairsIncreased variability in muscle fiber diameterLoss of ambulationMyofibrillar myopathyRimmed vacuolesFatty replacement of skeletal muscleSkeletal muscle fibrosisAbnormal muscle fiber morphologyPercussion myotonia

Classification & Codes

Orphanet Code

ORPHA:34516
autosomal dominant limb-girdle muscular dystrophy type 1E
OrphanetORPHA:34516
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
autosomal dominant limb-girdle muscular dystrophy type 1E | OrphanDrug