Myotonic Dystrophy Type 2 (DM2) malady
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases categories
NIH Rare Diseases:42 Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). it is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. signs and symptoms usually develop during a person's twenties or thirties. muscles in the neck, fingers, elbows, and hips are typically affected; facial and ankle muscles are less commonly involved. the severity of myotonic dystrophy type 2 varies widely among affected people, even among family members. it is inherited in an autosomal dominant pattern and is caused by mutations in the cnbp gene. treatment is based on each person's specific signs and symptoms. last updated: 2/10/2014
MalaCards based summary: Myotonic Dystrophy Type 2, also known as proximal myotonic myopathy, is related to myotonic dystrophy type 1 and myotonic dystrophy, and has symptoms including cataract, myotonia and autosomal dominant inheritance. An important gene associated with Myotonic Dystrophy Type 2 is CNBP (CCHC-type zinc finger, nucleic acid binding protein), and among its related pathways is Hepatic ABC Transporters. The compounds poly c and polyethylene glycol have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and smooth muscle, and related mouse phenotype muscle.
Disease Ontology:9 A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has physical basis in the autosomal dominant inheritance of the cnbp (znf9) gene containing an expansion of a cctg repeat in intron one.
OMIM:46 Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals... (602668) more...
GeneReviews summary for myotonic-d2
Myotonic Dystrophy Type 2, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare endocrine diseases
Characteristics (Orphanet epidemiological data):48
proximal myotonic myopathy:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly
Symptoms by clinical synopsis from OMIM:602668
Clinical features from OMIM:602668
HPO human phenotypes related to Myotonic Dystrophy Type 2:(show all 20)
MalaCards organs/tissues related to Myotonic Dystrophy Type 2:32
Eye, Heart, Smooth muscle, Pancreas, Skeletal muscle, Brain, Testes
Articles related to Myotonic Dystrophy Type 2:(show top 50) (show all 106)
Search GEO for disease gene expression data for Myotonic Dystrophy Type 2.
Cellular components related to Myotonic Dystrophy Type 2 according to GeneCards/GeneDecks:
Molecular functions related to Myotonic Dystrophy Type 2 according to GeneCards/GeneDecks:
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet