Myotonic dystrophy 2

Preferred Label : Myotonic dystrophy 2;

Symbol : DM2;

CISMeF acronym : DM2; PROMM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Proximal myotonic myopathy; Ricker syndrome; Dystrophia myotonica 2; Myotonic myopathy, proximal; PROMM;

Description : Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011). See also myotonic dystrophy-1 (DM1; 160900), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK; 605377) on 19q13. Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a (CCTG)n repeat expansion in the zinc finger protein 9 gene (ZNF9, 116955.0001);

Laboratory abnormalities : Elevated serum creatine kinase; Increased ALT; Increased cholesterol; Increased lactate dehydrogenase; Elevated gamma-glutamyltransferase (GGT); Decreased creatine; Decreased total protein;

Prefixed ID : #602668;

Details

Origin ID

602668;

UMLS CUI

C2931689;

Automatic exact mappings (from CISMeF team)
- CNBP wt Allele [NCIt concept]
- Myotonic dystrophy type 2 [ICD-11 More detail]
- Square decimeter (qualifier value) [SNOMED CT concept]
- Type 2 diabetes mellitus [ICD-11 Category]
- immunoglobulin heavy diversity 1-14 (non-functional) [HGNC gene]
- myotonic dystrophy [MeSH Descriptor]
- symbol withdrawn DM2 [HGNC gene]
Currated CISMeF NLP mapping
- Dystrophia Myotonica 2 [NCIt concept]
- Myotonic Dystrophy 2 [MeSH concept]
- Proximal myotonic myopathy [ORDO Disease]
- Proximal myotonic myopathy [PASCAL descriptor]
- Proximal myotonic myopathy (disorder) [SNOMED CT concept]
- myotonic disorders [MeSH Descriptor]
- myotonic dystrophy type 2 [Disease (Nov.)]
- myotonic dystrophy type 2 [DO Concept]
DO Cross reference
- myotonic dystrophy type 2 [DO Concept]
Genes related to phenotype
- Cchc-type zinc finger nucleic acid-binding protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased circulating total IgM [HPO term]
- Diabetes mellitus [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Frontal balding [HPO term]
- Hypogonadism [HPO term]
- Insulin insensitivity [HPO term]
- Iridescent posterior subcapsular cataract [HPO term]
- Myalgia [HPO term]
- Myotonia [HPO term]
- Neck flexor weakness [HPO term]
- Oligospermia [HPO term]
- Palpitations [HPO term]
- Proximal muscle weakness [HPO term]
- Tachycardia [HPO term]
- Type 2 muscle fiber atrophy [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Proximal myotonic myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystrophia Myotonica 2 [NCIt concept]
- Myotonic Dystrophy 2 [MeSH concept]
- Myotonic dystrophy type 2 [MedDRA LLT]
- Proximal myotonic myopathy [ORDO Disease]
- Proximal myotonic myopathy (disorder) [SNOMED CT concept]
- myotonic dystrophy type 2 [DO Concept]
- myotonic dystrophy type 2 [Disease (Nov.)]

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