ORPHA:273
Steinert myotonic dystrophy
Synonyms: Myotonic dystrophy type 1 · Steinert disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Steinert myotonic dystrophy | Myotonic dystrophy type 1 · Steinert disease |
| fr | Dystrophie myotonique de Steinert | Dystrophie myotonique de type 1 · Maladie de Steinert |
| de | Myotone Dystrophie Steinert | Curschmann-Steinert-Syndrom · Myotone Dystrophie Typ 1 · Steinert-Krankheit |
| es | Distrofia miotónica de Steinert | Distrofia miotónica tipo 1 · Enfermedad de Steinert |
| it | Distrofia miotonica di Steinert | Distrofia miotonica, tipo 1 · Malattia di Steinert |
| nl | Myotone dystrofie van Steinert | Myotone dystrofie type 1 · Ziekte van Steinert |
| pt | Distrofia miotónica de Steinert | Distrofia miotónica tipo 1 · Doença de Steinert |
| pl | Dystrofia miotoniczna Steinerta | Choroba Steinerta · DM1 · Dystrofia miotoniczna typu 1 · MD1 |
| cs | Myotonická dystrofie, typ 1 | MD1 · DM1 · Steinertova myotonická dystrofie · Steinertova nemoc |
| uk | Міотонічна дистрофія Штейнерта | Міотонічна дистрофія типу 1 · Хвороба Штейнерта |
| zh | Steinert强直性肌营养不良 | 营养不良性肌强直1型 |
| tr | Steinert miyotonik distrofisi | DM1 · MD1 · Steinert hastalığı · Miyotonik distrofi tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 160900 | E | validated | |
| ICD-10 | G71.1 | NTBT | inclusion | validated |
| ICD-11 | 8C71.0 | NTBT | index | validated |
| MONDO | 0008056 | E | validated | |
| MeSH | C538008 | E | validated | |
| UMLS | C3250443 | E | validated | |
| GARD | 8310 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:98648Musculoskeletal disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:206647Myotonic dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:522522Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
rare genetic diseases - ORPHA:98033Rare neurologic disease with psychiatric involvement
rare neurological diseases - ORPHA:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
4
Genes
0 direct · 5 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| DMPK | ORPHA:589821Congenital-onset Steinert myotonic dystrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:2933 | ENSG00000104936 | 605377 | 19q13.32 | DM1 protein kinase | 31326502[PMID] |
| DMPK | ORPHA:589824Childhood-onset Steinert myotonic dystrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:2933 | ENSG00000104936 | 605377 | 19q13.32 | DM1 protein kinase | 31326502[PMID] |
| DMPK | ORPHA:589827Juvenile-onset Steinert myotonic dystrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:2933 | ENSG00000104936 | 605377 | 19q13.32 | DM1 protein kinase | 31326502[PMID] |
| DMPK | ORPHA:589830Adult-onset Steinert myotonic dystrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:2933 | ENSG00000104936 | 605377 | 19q13.32 | DM1 protein kinase | 31326502[PMID] |
| DMPK | ORPHA:589833Late-onset Steinert myotonic dystrophy | Disease-causing germline mutation(s) in | Assessed | HGNC:2933 | ENSG00000104936 | 605377 | 19q13.32 | DM1 protein kinase | 31326502[PMID] |
5
Prevalence and incidence
16 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | 12.5 / 100 000 | Worldwide | Value and class | Not yet validated | ISBN:702021520[OTHER]_21364698[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.4 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.9 / 100 000 | Iceland | Value and class | Validated | 16264243[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.3 / 100 000 | Serbia | Value and class | Validated | 16713671[PMID]_21364698[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.13 / 100 000 | Japan | Value and class | Validated | 1745328[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.46 / 100 000 | Taiwan, Province of China | Value and class | Validated | 12902623[PMID]_21364698[PMID] |
| Point prevalence | 1-5 / 10 000 | 14.3 / 100 000 | South Africa | Value and class | Validated | 3992413[PMID] |
| Point prevalence | 6-9 / 10 000 | 76.3 / 100 000 | Specific population | Value and class | Validated | 4973215[PMID] |
| Point prevalence | >1 / 1000 | 210.5 / 100 000 | Specific population | Value and class | Validated | 2924205[PMID]_21364698[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.2 / 100 000 | Serbia | Value and class | Validated | 16713671[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.31 / 100 000 | Italy | Value and class | Validated | 11359466[PMID]_21364698[PMID] |
| Point prevalence | 1-5 / 10 000 | 11.95 / 100 000 | Ireland | Value and class | Validated | 14960839[PMID]_21364698[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Specific population | Value and class | Validated | 12784291[PMID]_21364698[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.7 / 100 000 | Specific population | Value and class | Validated | 12784291[PMID]_21364698[PMID] |
| Point prevalence | 1-5 / 10 000 | 18.1 / 100 000 | Croatia | Value and class | Validated | 9088385[PMID]_21364698[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
108 annotations · validated 2020-02-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001324 | Muscle weakness | |
| Very frequent (99-80%) | ||
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0002460 | Distal muscle weakness | |
| HP:0100284 | EMG: myotonic discharges | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0003740 | Myotonia with warm-up phenomenon | |
| HP:0007787 | Posterior subcapsular cataract | |
| Frequent (79-30%) | ||
| HP:0002494 | Abnormal rapid eye movement sleep | |
| HP:0410011 | Abnormality of masticatory muscle | |
| HP:0005110 | Atrial fibrillation | |
| HP:0000708 | Atypical behavior | |
| HP:0100543 | Cognitive impairment | |
| HP:0030192 | Fatigable weakness of bulbar muscles | |
| HP:0012378 | Fatigue | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0100786 | Hypersomnia | |
| HP:0031466 | Impairment in personality functioning | |
| HP:0003326 | Myalgia | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0012248 | Prolonged PR interval | |
| HP:0006677 | Prolonged QRS complex | |
| HP:0030319 | Weakness of facial musculature | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0040173 | Abnormality of the tongue muscle | |
| HP:0002926 | Abnormality of thyroid physiology | |
| HP:0001596 | Alopecia | |
| HP:0000739 | Anxiety | |
| HP:0000483 | Astigmatism | |
| HP:0000729 | Autistic behavior | |
| HP:0001488 | Bilateral ptosis | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001081 | Cholelithiasis | |
| HP:0002019 | Constipation | |
| HP:0000144 | Decreased fertility | |
| HP:0001558 | Decreased fetal movement | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0000716 | Depression | |
| HP:0000819 | Diabetes mellitus | |
| HP:0009113 | Diaphragmatic weakness | |
| HP:0002014 | Diarrhea | |
| HP:0003693 | Distal amyotrophy | |
| HP:0001260 | Dysarthria | |
| HP:0002234 | Early balding | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000712 | Emotional lability | |
| HP:0001349 | Facial diplegia | |
| HP:0002527 | Falls | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0012899 | Handgrip myotonia | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0000540 | Hypermetropia | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0000802 | Impotence | |
| HP:0000855 | Insulin resistance | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0004389 | Intestinal pseudo-obstruction | |
| HP:0025169 | Left ventricular systolic dysfunction | |
| HP:0007941 | Limited extraocular movements | |
| HP:0000026 | Male hypogonadism | |
| HP:0001268 | Mental deterioration | |
| HP:0010952 | Mild fetal ventriculomegaly | |
| HP:0012901 | Myotonia of the jaw | |
| HP:0012903 | Myotonia of the upper limb | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0003722 | Neck flexor weakness | |
| HP:0000467 | Neck muscle weakness | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0011999 | Paranoia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001561 | Polyhydramnios | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0007663 | Reduced visual acuity | |
| HP:0002878 | Respiratory failure | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0000867 | Secondary hyperparathyroidism | |
| HP:0000736 | Short attention span | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001328 | Specific learning disability | |
| HP:0004755 | Supraventricular tachycardia | |
| HP:0001762 | Talipes equinovarus | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000029 | Testicular atrophy | |
| Very rare (<4-1%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000717 | Autism | |
| HP:0030692 | Brain neoplasm | |
| HP:0012054 | Choroidal melanoma | |
| HP:0003003 | Colon cancer | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0012114 | Endometrial carcinoma | |
| HP:0002540 | Inability to walk | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0040198 | Non-medullary thyroid carcinoma | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0025318 | Ovarian carcinoma | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0003547 | Shoulder girdle muscle weakness | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301344[PMID]_25037086[PMID]_24882752[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/273
- This record as JSON: /data/d/273.json