Format

Send to:

Choose Destination

Links from PubMed

Steinert myotonic dystrophy syndrome(DM1)

MedGen UID:
10239
Concept ID:
C0027126
Disease or Syndrome
Synonyms: DM1; DYSTROPHIA MYOTONICA; Dystrophia myotonica type 1; Myotonic Dystrophy; Myotonic dystrophy type 1; Steinert disease; Steinert myotonic dystrophy; Steinert's disease
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Myotonic dystrophy (77956009); DM - Dystrophia myotonica (77956009); Myotonia dystrophica (77956009); Steinert myotonic dystrophy syndrome (77956009); Steinert syndrome (77956009); Dystrophia myotonica (77956009)
 
Gene (location): DMPK (19q13.32)
OMIM®: 160900

Disease characteristics

Excerpted from the GeneReview: Myotonic Dystrophy Type 1
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common. [from GeneReviews]
Authors:
Thomas D Bird   view full author information

Additional descriptions

From OMIM
Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic Dystrophy See also myotonic dystrophy-2 (DM2; 602668), which is caused by mutation in the ZNF9 gene (116955) on chromosome 3q.  http://www.omim.org/entry/160900
From GHR
Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood.Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw.Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). In affected men, hormonal changes may lead to early balding and an inability to father a child (infertility). The features of this disorder often develop during a person's twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family.There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves the muscles of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes.A variation of type 1 myotonic dystrophy, called congenital myotonic dystrophy, is apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.  https://ghr.nlm.nih.gov/condition/myotonic-dystrophy

Clinical features

Cholelithiasis
MedGen UID:
3039
Concept ID:
C0008350
Disease or Syndrome
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
Myotonia
MedGen UID:
10238
Concept ID:
C0027125
Finding
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
First degree atrioventricular block
MedGen UID:
43215
Concept ID:
C0085614
Disease or Syndrome
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Testicular atrophy
MedGen UID:
57626
Concept ID:
C0156312
Disease or Syndrome
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
Brain atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Excessive daytime sleepiness
MedGen UID:
151959
Concept ID:
C0694563
Sign or Symptom
Obsessive-compulsive trait
MedGen UID:
322417
Concept ID:
C1834433
Finding
Facial diplegia
MedGen UID:
322796
Concept ID:
C1836003
Finding
Intellectual disability, progressive
MedGen UID:
337397
Concept ID:
C1846149
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Frontal balding
MedGen UID:
355251
Concept ID:
C1864584
Finding
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSteinert myotonic dystrophy syndrome
Follow this link to review classifications for Steinert myotonic dystrophy syndrome in Orphanet.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center