Steinert myotonic dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: DYSTROPHIA MYOTONICA
DYSTROPHIA MYOTONICA 1
DM
DM1
MD1
steinert disease
Myotonic dystrophy type 1
Number of Symptoms 86
OrphanetNr: 273
OMIM Id: 160900
ICD-10: G71.1
UMLs: C2931688
MeSH: C538008
MedDRA:
Snomed: 77956009

Prevalence, inheritance and age of onset:

Prevalence: < 15 of 100 000 - PMID: 27141276 [IBIS]
Inheritance: Autosomal dominant
- PMID: 24803843 [IBIS]
Age of onset: Neonatal
Adult
- PMID: 24803843 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Musculoskeletal disease with cataract
 -Rare eye disease
 -Rare genetic disease
Myopathy with eye involvement
 -Rare eye disease
 -Rare genetic disease
Myotonic dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Non-hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease
Rare neurologic disease with psychiatric involvement
 -Rare neurologic disease
Syndrome associated with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Patients with DM1 can be divided into four main categories, each presenting specific clinical features and management problems: congenital, childhood-onset, adult-onset, and late-onset/asymptomatic (PMID:24803843).

Symptom Information: Sort by abundance 

1
(HPO:0000407) Sensorineural hearing impairment 21777352 IBIS 524 / 7739
2
(HPO:0005750) Contractures of the joints of the lower limbs Frequent [IBIS] 48% (n=21) 24289806 IBIS 5 / 7739
3
(HPO:0100360) Contractures of the joints of the upper limbs Occasional [IBIS] 10% (n=21) 24289806 IBIS 3 / 7739
4
(HPO:0003306) Spinal rigidity Occasional [IBIS] 10% (n=21) 24289806 IBIS 30 / 7739
5
(HPO:0002650) Scoliosis Occasional [IBIS] 14% (n=21) 24289806 IBIS 705 / 7739
6
(HPO:0001760) Abnormality of the foot Very frequent [IBIS] 95% (n=21) 24289806 IBIS 96 / 7739
7
(HPO:0001883) Talipes 24803843 IBIS 12 / 7739
8
(HPO:0001762) Talipes equinovarus 24289806 IBIS 309 / 7739
9
(HPO:0002500) Abnormality of the cerebral white matter 22290140 IBIS 73 / 7739
10
(HPO:0001288) Gait disturbance 27234310 IBIS 318 / 7739
11
(HPO:0000177) Abnormality of upper lip 24803843 IBIS 3 / 7739
12
(HPO:0100335) Non-midline cleft lip Occasional [Orphanet] 24803843 IBIS 12 / 7739
13
(HPO:0011968) Feeding difficulties 24803843 IBIS 240 / 7739
14
(HPO:0008872) Feeding difficulties in infancy 24803843 IBIS 153 / 7739
15
(HPO:0000518) Cataract Frequent [Orphanet] Very frequent [IBIS] 24803843 IBIS 454 / 7739
16
(HPO:0000486) Strabismus Occasional [Orphanet] 20560889 IBIS 576 / 7739
17
(HPO:0000508) Ptosis 24803843 IBIS 459 / 7739
18
(HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 24803843 IBIS 410 / 7739
19
(HPO:0002747) Respiratory insufficiency due to muscle weakness 24803843 IBIS 48 / 7739
20
(HPO:0002094) Dyspnea Frequent [Orphanet] 15782610 IBIS 132 / 7739
21
(HPO:0002643) Neonatal respiratory distress 24803843 IBIS 22 / 7739
22
(HPO:0002098) Respiratory distress Frequent [Orphanet] 24803843 IBIS 75 / 7739
23
(HPO:0001612) Weak cry 24803843 IBIS 17 / 7739
24
(HPO:0001714) Ventricular hypertrophy 24803843 IBIS 20 / 7739
25
(HPO:0001638) Cardiomyopathy 24803843 IBIS 192 / 7739
26
(HPO:0001644) Dilated cardiomyopathy 24803843 IBIS 141 / 7739
27
(HPO:0011675) Arrhythmia Very frequent [Orphanet] Very frequent [IBIS] 23717784 IBIS 226 / 7739
28
(HPO:0011705) First degree atrioventricular block 23717784 IBIS 13 / 7739
29
(HPO:0005110) Atrial fibrillation 23717784 IBIS 71 / 7739
30
(HPO:0004749) Atrial flutter 23717784 IBIS 20 / 7739
31
(HPO:0001678) Atrioventricular block Very frequent [Orphanet] hallmark [HPO] 23717784 IBIS 59 / 7739
32
(HPO:0003116) Abnormal echocardiogram 23717784 IBIS 33 / 7739
33
(HPO:0012664) Reduced ejection fraction 23717784 IBIS 32 / 7739
34
(HPO:0001634) Mitral valve prolapse 23717784 IBIS 69 / 7739
35
(HPO:0011710) Bundle branch block Very frequent [Orphanet] 23717784 IBIS 14 / 7739
36
(HPO:0010628) Facial palsy Frequent [Orphanet] Very frequent [IBIS] 24803843 IBIS 146 / 7739
37
(HPO:0001349) Facial diplegia 23622362 IBIS 16 / 7739
38
(HPO:0004673) Decreased facial expression Very frequent [Orphanet] hallmark [HPO] 20638139 IBIS 5 / 7739
39
(HPO:0000338) Hypomimic face Very frequent [Orphanet] hallmark [HPO] 20638139 IBIS 8 / 7739
40
(HPO:0100295) Muscle fiber atrophy Very frequent [Orphanet] Hallmark [HPO] 24803843 IBIS 22 / 7739
41
(HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 24803843 IBIS 281 / 7739
42
(HPO:0003700) Generalized amyotrophy Very frequent [Orphanet] Hallmark [HPO] 24803843 IBIS 39 / 7739
43
(HPO:0012036) Sternocleidomastoid amyotrophy 24803843 IBIS 2 / 7739
44
(HPO:0003560) Muscular dystrophy Very frequent [Orphanet] Very frequent [IBIS] 24803843 IBIS 88 / 7739
45
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 24803843 IBIS 990 / 7739
46
(HPO:0003457) EMG abnormality Very frequent [Orphanet] Very frequent [IBIS] 24803843 IBIS 78 / 7739
47
(HPO:0100284) EMG: myotonic discharges 27141276 IBIS 1 / 7739
48
(HPO:0001324) Muscle weakness Frequent [Orphanet] typical [HPO] 24803843 IBIS 859 / 7739
49
(HPO:0001283) Bulbar palsy 24803843 IBIS 31 / 7739
50
(HPO:0002460) Distal muscle weakness 24803843 IBIS 122 / 7739
51
(HPO:0003324) Generalized muscle weakness 24803843 IBIS 48 / 7739
52
(HPO:0003701) Proximal muscle weakness 24803843 IBIS 105 / 7739
53
(HPO:0002486) Myotonia Very frequent [Orphanet] Very frequent [IBIS] 24803843 IBIS 29 / 7739
54
(HPO:0000708) Behavioral abnormality 24803843 IBIS 212 / 7739
55
(HPO:0001328) Specific learning disability Frequent [Orphanet] 24803843 IBIS 114 / 7739
56
(HPO:0001263) Global developmental delay Frequent [Orphanet] 24803843 IBIS 853 / 7739
57
(HPO:0001249) Intellectual disability Frequent [Orphanet] 24803843 IBIS 1089 / 7739
58
(HPO:0006887) Intellectual disability, progressive 24803843 IBIS 68 / 7739
59
(HPO:0010864) Intellectual disability, severe 24803843 IBIS 120 / 7739
60
(HPO:0001270) Motor delay Frequent [Orphanet] 24803843 IBIS 322 / 7739
61
(HPO:0000750) Delayed speech and language development 20638139 IBIS 197 / 7739
62
(HPO:0000722) Obsessive-compulsive behavior 9605719 IBIS 35 / 7739
63
(HPO:0008770) Obsessive-compulsive trait 9605719 IBIS 6 / 7739
64
(HPO:0002189) Excessive daytime sleepiness 23430686 IBIS 8 / 7739
65
(HPO:0100786) Hypersomnia 24803843 IBIS 4 / 7739
66
(HPO:0002494) Abnormal rapid eye movement sleep 18195268 IBIS 4 / 7739
67
(OMIM) Reduced sleep latency 18195268 IBIS 1 / 7739
68
(HPO:0100543) Cognitive impairment Frequent [Orphanet] 24803843 IBIS 230 / 7739
69
(HPO:0002015) Dysphagia 24803843 IBIS 301 / 7739
70
(HPO:0001558) Decreased fetal movement 24803843 IBIS 74 / 7739
71
(HPO:0001561) Polyhydramnios 24803843 IBIS 191 / 7739
72
(HPO:0003272) Abnormality of the hip bone Occasional [Orphanet] 24289806 IBIS 3 / 7739
73
(HPO:0002292) Frontal balding 10397582 IBIS 4 / 7739
74
(HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 25813338 IBIS 92 / 7739
75
(HPO:0000818) Abnormality of the endocrine system Frequent [Orphanet] 24399868 IBIS 26 / 7739
76
(HPO:0000802) Impotence Frequent [IBIS] 72% (n=25) 24399868 IBIS 20 / 7739
77
(HPO:0000135) Hypogonadism 24399868 IBIS 89 / 7739
78
(HPO:0000026) Male hypogonadism 24399868 IBIS 20 / 7739
79
(HPO:0000035) Abnormality of the testis 24399868 IBIS 296 / 7739
80
(HPO:0000029) Testicular atrophy 10397582 IBIS 13 / 7739
81
(HPO:0000298) Mask-like facies Very frequent [Orphanet] 20638139 IBIS 44 / 7739
82
(HPO:0000819) Diabetes mellitus Frequent [IBIS] 24803843 IBIS 131 / 7739
83
(HPO:0045037) Abnormality of jaw muscles Very frequent [IBIS] 24803843 IBIS 1 / 7739
84
(HPO:0002059) Cerebral atrophy 24803843 IBIS 171 / 7739
85
(HPO:0030319) Weakness of facial musculature Very frequent [IBIS] 24803843 IBIS 4 / 7739
86
(OMIM) Mild cognitive deterioration in adults 24803843 IBIS 1 / 7739

Associated genes:

DMPK;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DMPK rs786200945 pathogenic RCV000167662.1
DMPK rs786200945 pathogenic RCV000167676.1
DMPK rs786200945 pathogenic RCV000167702.1
DMPK rs786200945 pathogenic RCV000167729.1
DMPK rs786200945 pathogenic RCV000167684.1
DMPK rs786200945 pathogenic RCV000167751.1
DMPK rs786200945 pathogenic RCV000167664.1
DMPK rs786200945 pathogenic RCV000167747.1
DMPK rs786200945 pathogenic RCV000167640.1
DMPK rs786200945 pathogenic RCV000167654.1
DMPK rs786200945 pathogenic RCV000167677.1
DMPK rs786200945 pathogenic RCV000167724.1
DMPK rs786200945 pathogenic RCV000167642.1
DMPK rs786200945 pathogenic RCV000167725.1
DMPK rs786200945 pathogenic RCV000167720.1
DMPK rs786200945 pathogenic RCV000167752.1
DMPK rs786200945 pathogenic RCV000167761.1
DMPK rs786200945 pathogenic RCV000167753.1
DMPK rs786200945 pathogenic RCV000167638.1
DMPK rs786200945 pathogenic RCV000167670.1
DMPK rs786200945 pathogenic RCV000167646.1
DMPK rs786200945 pathogenic RCV000167748.1
DMPK rs786200945 pathogenic RCV000167698.1
DMPK rs786200945 pathogenic RCV000167713.1
DMPK rs786200945 pathogenic RCV000167742.1
DMPK rs786200945 pathogenic RCV000167719.1
DMPK rs786200945 pathogenic RCV000167678.1
DMPK rs786200945 pathogenic RCV000167693.1
DMPK rs786200945 pathogenic RCV000167700.1
DMPK rs786200945 pathogenic RCV000167733.1
DMPK rs786200945 pathogenic RCV000167652.1
DMPK rs786200945 pathogenic RCV000167721.1
DMPK rs786200945 pathogenic RCV000167660.1
DMPK rs786200945 pathogenic RCV000167763.1
DMPK rs786200945 pathogenic RCV000167630.1
DMPK rs786200945 pathogenic RCV000167671.1
DMPK rs786200945 pathogenic RCV000167754.1
DMPK rs786200945 pathogenic RCV000167645.1
DMPK rs786200945 pathogenic RCV000167762.1
DMPK rs786200945 pathogenic RCV000167704.1
DMPK rs786200945 pathogenic RCV000167715.1
DMPK rs786200945 pathogenic RCV000167665.1
DMPK rs786200945 pathogenic RCV000167739.1
DMPK rs786200945 pathogenic RCV000167687.1
DMPK rs786200945 pathogenic RCV000167701.1
DMPK rs786200945 pathogenic RCV000167691.1
DMPK rs786200945 pathogenic RCV000167727.1
DMPK rs786200945 pathogenic RCV000167738.1
DMPK rs786200945 pathogenic RCV000167673.1
DMPK rs786200945 pathogenic RCV000167641.1
DMPK rs786200945 pathogenic RCV000167628.1
DMPK rs786200945 pathogenic RCV000167643.1
DMPK rs786200945 pathogenic RCV000167631.1
DMPK rs786200945 pathogenic RCV000167756.1
DMPK rs786200945 pathogenic RCV000167632.1
DMPK rs786200945 pathogenic RCV000167732.1
DMPK rs786200945 pathogenic RCV000167711.1
DMPK rs786200945 pathogenic RCV000167635.1
DMPK rs786200945 pathogenic RCV000167697.1
DMPK rs786200945 pathogenic RCV000167734.1
DMPK rs786200945 pathogenic RCV000167667.1
DMPK rs786200945 pathogenic RCV000167663.1
DMPK rs786200945 pathogenic RCV000167669.1
DMPK rs786200945 pathogenic RCV000167699.1
DMPK rs786200945 pathogenic RCV000167692.1
DMPK rs786200945 pathogenic RCV000167706.1
DMPK rs786200945 pathogenic RCV000167651.1
DMPK rs786200945 pathogenic RCV000167682.1
DMPK rs786200945 pathogenic RCV000167634.1
DMPK rs786200945 pathogenic RCV000167648.1
DMPK rs786200945 pathogenic RCV000167647.1
DMPK rs786200945 pathogenic RCV000167627.1
DMPK rs786200945 pathogenic RCV000167746.1
DMPK rs786200945 pathogenic RCV000167685.1
DMPK rs786200945 pathogenic RCV000167731.1
DMPK rs786200945 pathogenic RCV000167683.1
DMPK rs786200945 pathogenic RCV000167633.1
DMPK rs786200945 pathogenic RCV000167680.1
DMPK rs786200945 pathogenic RCV000167694.1
DMPK rs786200945 pathogenic RCV000167749.1
DMPK rs786200945 pathogenic RCV000167759.1
DMPK rs786200945 pathogenic RCV000167722.1
DMPK rs786200945 pathogenic RCV000167672.1
DMPK rs786200945 pathogenic RCV000167736.1
DMPK rs786200945 pathogenic RCV000167703.1
DMPK rs786200945 pathogenic RCV000167644.1
DMPK rs786200945 pathogenic RCV000167695.1
DMPK rs786200945 pathogenic RCV000167755.1
DMPK rs786200945 pathogenic RCV000167737.1
DMPK rs786200945 pathogenic RCV000167696.1
DMPK rs786200945 pathogenic RCV000167744.1
DMPK rs786200945 pathogenic RCV000167730.1
DMPK rs786200945 pathogenic RCV000167675.1
DMPK rs786200945 pathogenic RCV000167758.1
DMPK rs786200945 pathogenic RCV000167735.1
DMPK rs786200945 pathogenic RCV000167689.1
DMPK rs786200945 pathogenic RCV000167750.1
DMPK rs786200945 pathogenic RCV000167661.1
DMPK rs786200945 pathogenic RCV000167708.1
DMPK rs786200945 pathogenic RCV000167757.1
DMPK rs786200945 pathogenic RCV000167653.1
DMPK rs786200945 pathogenic RCV000167659.1
DMPK rs786200945 pathogenic RCV000167674.1
DMPK rs786200945 pathogenic RCV000167723.1
DMPK rs786200945 pathogenic RCV000167636.1
DMPK rs786200945 pathogenic RCV000167658.1
DMPK rs786200945 pathogenic RCV000167637.1
DMPK rs786200945 pathogenic RCV000167639.1
DMPK rs786200945 pathogenic RCV000167656.1
DMPK rs786200945 pathogenic RCV000167760.1
DMPK rs786200945 pathogenic RCV000167666.1
DMPK rs786200945 pathogenic RCV000167709.1
DMPK rs786200945 pathogenic RCV000167655.1
DMPK rs786200945 pathogenic RCV000167690.1
DMPK rs786200945 pathogenic RCV000167657.1
DMPK rs786200945 pathogenic RCV000167740.1
DMPK rs786200945 pathogenic RCV000167629.1
DMPK rs786200945 pathogenic RCV000167717.1
DMPK rs786200945 pathogenic RCV000167712.1
DMPK rs786200945 pathogenic RCV000167728.1
DMPK rs786200945 pathogenic RCV000167743.1
DMPK rs786200945 pathogenic RCV000167745.1
DMPK rs786200945 pathogenic RCV000167710.1
DMPK rs786200945 pathogenic RCV000167679.1
DMPK rs786200945 pathogenic RCV000167688.1
DMPK rs786200945 pathogenic RCV000167741.1
DMPK rs786200945 pathogenic RCV000167650.1
DMPK rs786200945 pathogenic RCV000167707.1
DMPK rs786200945 pathogenic RCV000167668.1
DMPK rs786200945 pathogenic RCV000167686.1
DMPK rs786200945 pathogenic RCV000167649.1
DMPK rs786200945 pathogenic RCV000167705.1
DMPK rs786200945 pathogenic RCV000167718.1
DMPK rs786200945 pathogenic RCV000167714.1
DMPK rs786200945 pathogenic RCV000167716.1
DMPK rs786200945 pathogenic RCV000167726.1
DMPK rs786200945 pathogenic RCV000167681.1

Additional Information:

Description: (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 ...
Diagnosis OMIM In classic adult-onset cases, clinical diagnosis is straightforward with demonstration of progressive distal and bulbar dystrophy in the presence of myotonia, with frontal balding, and cataracts. Confirmatory evidence is provided by demonstration of depressed IgG and elevated CPK ...
Clinical Description OMIM - ADULT-ONSET MYOTONIC DYSTROPHY

In adult-onset DM1, symptoms typically become evident in middle life, but signs can be detectable in the second decade. Bundey et al. (1970) found that the most useful method for identifying subclinical ...

Genotype-Phenotype Correlations OMIM Arsenault et al. (2006) examined 102 patients with DM1 carrying small CTG repeat expansions in the DMPK gene. Most patients with 50 to 99 repeats were asymptomatic except for cataracts. Patients with 100 to 200 repeats were significantly ...
Molecular genetics OMIM - Identification of an Expanded Triplet Repeat

Harley et al. (1992) isolated a human genomic clone that detected novel restriction fragments specific to persons with myotonic dystrophy. A 2-allele EcoRI polymorphism was seen in normal persons, ...

Population genetics OMIM The overall prevalence of DM1 is estimated to be 1 in 8,000 (Musova et al., 2009).

In the Saguenay region of the province of Quebec, the prevalence of myotonic dystrophy is about 1 in 475; about ...

Diagnosis GeneReviews Myotonic dystrophy type 1 (DM1) is suspected in adults with the following: ...
Clinical Description GeneReviews Clinical findings in myotonic dystrophy type 1 (DM1) span a continuum from mild to severe. Udd & Krahe [2012] provide an excellent overview of all aspects of DM1. The clinical findings have been categorized into three somewhat overlapping phenotypes (mild, classic, and congenital) that generally correlate with CTG repeat size (Table 2). The CTG repeat ranges for the phenotypes in Table 2 have considerable overlap and caution must be used in predicting disease severity on the basis of CTG repeat size [Gharehbaghi-Schnell et al 1998, International Myotonic Dystrophy Consortium 2000, Harper 2001, Moxley & Meola 2008]....
Differential Diagnosis GeneReviews Table 3. Myotonic Dystrophy: OMIM Phenotypic Series...
Management GeneReviews To establish the extent of disease and needs in children diagnosed with congenital myotonic dystrophy type 1 (DM1), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....