ORPHA:614
Thomsen and Becker disease
Synonyms: Myotonia congenita
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thomsen and Becker disease | Myotonia congenita |
| fr | Myotonie congénitale de Thomsen et Becker | |
| de | Myotonia congenita Typ Thomsen und Becker | = en |
| es | Enfermedad de Thomsen y Becker | |
| it | Malattia di Thomsen e Becker | |
| nl | Ziekte van Thomsen en Becker | = en |
| pt | Doença de Thomsen e Becker | Miotonia congénita |
| pl | Choroba Thomsena i Beckera | Miotonia wrodzona |
| cs | Thomsenova a Beckerova choroba | Kongenitální myotonie · Thomsenova a Beckerova nemoc · Thomsenova vrozená myotonie |
| uk | Хвороба Томсена і Беккера | Вроджена міотонія |
| zh | 先天性肌强直 | 先天性肌强直 |
| tr | Thomsen ve Becker hastalığı | Miyotoni konjenita |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 160800 | BTNT | validated | |
| OMIM | 255700 | BTNT | validated | |
| ICD-10 | G71.1 | NTBT | inclusion | validated |
| ICD-11 | 8C71.2 | E | specific | validated |
| MONDO | 0009710 | E | validated | |
| UMLS | C0027127 | E | validated | |
| GARD | 12301 | E | validated | |
| MedDRA | 10028655 | 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 (2):
- ORPHA:206973Congenital myotonia
rare genetic diseases; rare neurological diseases - ORPHA:98739Neurological muscular channelopathy due to a genetic chloride channel defect
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98115OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLCN1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2019 | ENSG00000188037 | 118425 | 7q34 | chloride voltage-gated channel 1 | 20301529[PMID] |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 1822774[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 7.3 / 100 000 | Finland | Value and class | Validated | 9598722[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.9 / 100 000 | Italy | Value and class | Validated | 7161034[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.75 / 100 000 | Netherlands | Value and class | Validated | 29606556[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.52 / 100 000 | United Kingdom | Value and class | Validated | 23516313[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
15 annotations · validated 2024-03-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003457 | EMG abnormality | |
| HP:0100284 | EMG: myotonic discharges | |
| HP:0003552 | Muscle stiffness | |
| HP:0002486 | Myotonia | |
| HP:0003740 | Myotonia with warm-up phenomenon | |
| Frequent (79-30%) | ||
| HP:0003326 | Myalgia | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| Occasional (29-5%) | ||
| HP:0002312 | Clumsiness | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0003394 | Muscle spasm | |
| HP:0009063 | Progressive distal muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0002015 | Dysphagia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 32966006[PMID]_20301529[PMID]_35170402[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/614
- This record as JSON: /data/d/614.json