myotonic dystrophy type 2
Findings
No curated finding names myotonic dystrophy type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders.
Definition from the Mondo Disease Ontology (MONDO:0011266), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
39 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.
- Complete right bundle branch blockHPOHP:0011712
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- Generalized amyotrophyHPOHP:0003700
- 1 of 1 reported patient
- Handgrip myotoniaHPOHP:0012899
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- Periventricular white matter hyperintensitiesHPOHP:0030891
- 1 of 1 reported patient
- Posterior subcapsular cataractHPO
Show the remaining 27
- Axial muscle weaknessHPOHP:0003327
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- MyalgiaHPOHP:0003326
- Very frequent (80% to 99% of cases)
- MyotoniaHPOHP:0002486
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- 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.
- CNBPHGNC:13164
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: myotonic dystrophy type 2
- Also called
- CNBP myotonic dystrophymyotonic dystrophy caused by mutation in CNBPproximal myotonic dystrophyproximal myotonic myopathyricker diseasericker syndrome