autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Findings
No curated finding names autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.
Definition from the Mondo Disease Ontology (MONDO:0021018), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- 2 of 2 reported patients
- Rimmed vacuolesHPOHP:0003805
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Generalized muscle weaknessHPOHP:0003324
- Very frequent (80% to 99% of cases)
- Difficulty climbing stairsHPOHP:0003551
- 6 of 9 reported patients
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNAJB6HGNC:14888
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
- Also called
- autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6DNAJB6 autosomal dominant limb-girdle muscular dystrophyLGMD1DLGMD1D (DNAJB6)muscular dystrophy, limb-girdle, autosomal dominant 1