Myotonic Dystrophy Type 1 (DM1) malady
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Muscle diseases categories
OMIM:46 Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts,... (160900) more...
MalaCards based summary: Myotonic Dystrophy Type 1, also known as steinert myotonic dystrophy, is related to myotonic dystrophy and myopathy, and has symptoms including mask-like facies, hypertonia and myotonia. An important gene associated with Myotonic Dystrophy Type 1 is DMPK (dystrophia myotonica-protein kinase). The compounds acetylcholine and thapsigargin have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and smooth muscle, and related mouse phenotype muscle.
Disease Ontology:9 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has physical basis in the autosomal dominant inheritance of the dmpk gene containing an expansion of a ctg trinucleotide repeat in the non-coding region.
NIH Rare Diseases:42 Myotonic dystrophy type 1, one of the two types of myotonic dystrophy,Â is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas).Â Â myotonic dystrophy type 1Â has been categorized into three somewhat overlapping subtypes: mild, classic, and congenitalÂ (present at birth). symptoms of the mildÂ form are the least severe with a normalÂ life span. the classic formÂ is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heartÂ function; adults may become physically disabled and may have a shortened life span. the congenital form is characterized by severe generalized weakeness at birth (hypotonia), oftenÂ causing complications with breathing and early death. the condition is inherited in an autosomal dominant pattern and is caused by mutations in theÂ dmpk gene. last updated: 5/11/2011
GeneReviews summary for myotonic-d
Myotonic Dystrophy Type 1, 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
myotonic dystrophy type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age
Symptoms by clinical synopsis from OMIM:160900
Clinical features from OMIM:160900
Symptoms:48 (show all 23)
HPO human phenotypes related to Myotonic Dystrophy Type 1:(show all 44)
MalaCards organs/tissues related to Myotonic Dystrophy Type 1:32
Heart, Eye, Smooth muscle, Pancreas, Testes, Skeletal muscle, Brain, Lung, Cerebellum, Liver, Thyroid
Articles related to Myotonic Dystrophy Type 1:(show top 50) (show all 330)
Search GEO for disease gene expression data for Myotonic Dystrophy Type 1.
27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet