ORPHA:606
Proximal myotonic myopathy
Synonyms: Myotonic dystrophy type 2 · Proximal myotonic dystrophy · Ricker disease · Ricker syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal myotonic myopathy | Myotonic dystrophy type 2 · Proximal myotonic dystrophy · Ricker disease · Ricker syndrome |
| fr | Myopathie myotonique proximale | Dystrophie myotonique proximale · Dystrophie myotonique type 2 · Maladie de Ricker · Syndrome de Ricker |
| de | Myopathie, myotone proximale | Dystrophie, myotone proximale · Dystrophie, myotone, Typ 2 · PROMM · Ricker-Syndrom |
| es | Miopatía miotónica proximal | Distrofia miotónica proximal · Distrofia miotónica tipo 2 · Enfermedad de Ricker · Síndrome de Ricker |
| it | Miopatia miotonica prossimale | Distrofia miotonica prossimale · Distrofia miotonica, tipo 2 · Malattia di Ricker · Sindrome di Ricker |
| nl | Proximale myotone myopathie | Myotone dystrofie type 2 · Proximale myotone dystrofie · Syndroom van Ricker · Ziekte van Ricker |
| pt | Miopatia miotónica proximal | Distrofia miotónica proximal · Distrofia miotónica tipo 2 · Síndrome Ricker |
| pl | Dystrofia miotoniczna typu 2 | Choroba Rickera · Miotoniczna dystrofia typu 2 · Proksymalna dystrofia miotoniczna · Zespół Rickera |
| cs | Myotonická dystrofie, typ 2 | Proximální myotonická myopatie · Proximální myotonická dystrofie · Rickerova nemoc · Rickerův syndrom |
| uk | Проксимальна міотонічна міопатія | Міотонічна дистрофія 2 типу · Проксимальна міотонічна дистрофія · Хвороба Рікера · Синдром Рікера |
| zh | 近位肌强直肌病 | 近端强直性肌营养不良 |
| tr | Proksimal miyotonik miyopati | Ricker hastalığı · Ricker sendromu · Miyotonik distrofi tip 2 · Proksimal miyotonik distrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602668 | E | validated | |
| ICD-10 | G71.1 | NTBT | attributed | validated |
| ICD-11 | 8C71.0 | NTBT | index | validated |
| MONDO | 0011266 | E | validated | |
| UMLS | C2931689 | E | validated | |
| GARD | 9728 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:206647Myotonic dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CNBP | Disease-causing germline mutation(s) in | Assessed | HGNC:13164 | ENSG00000169714 | 116955 | 3q21.3 | CCHC-type zinc finger nucleic acid binding protein | 20301639[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Germany | Value and class | Validated | 12921797[PMID]_12970845[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Finland | Value and class | Validated | 16684600[PMID]_22995693[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.17 / 100 000 | United Kingdom | Value and class | Validated | 19767415[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.
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HPO phenotypes
30 annotations · validated 2024-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003327 | Axial muscle weakness | |
| HP:0000518 | Cataract | |
| HP:0003326 | Myalgia | |
| HP:0002486 | Myotonia | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002019 | Constipation | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0002015 | Dysphagia | |
| HP:0008189 | Insulin insensitivity | |
| HP:0003552 | Muscle stiffness | |
| HP:0007787 | Posterior subcapsular cataract | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0005978 | Type II diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0002926 | Abnormality of thyroid physiology | |
| HP:0001348 | Brisk reflexes | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0001638 | Cardiomyopathy | |
| HP:0100543 | Cognitive impairment | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0012378 | Fatigue | |
| HP:0000975 | Hyperhidrosis | |
| HP:0003077 | Hyperlipidemia | |
| HP:0000026 | Male hypogonadism | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0012452 | Restless legs | |
| HP:0002360 | Sleep abnormality | |
| HP:0030319 | Weakness of facial musculature | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301639[PMID]_33458578[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/606
- This record as JSON: /data/d/606.json