ORPHA:590
Congenital myasthenic syndrome
Synonyms: CMS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic neuromuscular disease characterized by impaired transmission at the neuromuscular junction, typically presenting in infancy or childhood, although later onset is possible. The hallmark symptom is muscle fatigability, frequently accompanied by ocular manifestations (ptosis, ophthalmoparesis), bulbar involvement (dysphagia), a generalized weakness, which can lead to potentially life-threatening respiratory insufficiency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital myasthenic syndrome | CMS |
| fr | Syndrome myasthénique congénital | CMS · SMC |
| de | Kongenitales myasthenes Syndrom | = en |
| es | Síndrome miasténico congénito | SMC |
| it | Sindrome miastenica congenita | = en |
| nl | Congenitaal myastheen syndroom | = en |
| pt | Síndromes miasténicos congénitos | |
| pl | Wrodzony zespół miasteniczny | = en |
| cs | Vrozený myastenický syndrom | = en |
| uk | Вроджений міастенічний синдром | = en |
| zh | 先天性肌无力综合征 | = en |
| tr | Doğumsal miyastenik sendrom | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 254190 | BTNT | validated | |
| OMIM | 254210 | BTNT | validated | |
| OMIM | 254300 | BTNT | validated | |
| OMIM | 601462 | BTNT | validated | |
| OMIM | 603034 | BTNT | validated | |
| OMIM | 605809 | BTNT | validated | |
| OMIM | 608930 | BTNT | validated | |
| OMIM | 608931 | BTNT | validated | |
| OMIM | 610542 | BTNT | validated | |
| OMIM | 614198 | BTNT | validated | |
| OMIM | 614750 | BTNT | validated | |
| OMIM | 615120 | BTNT | validated | |
| OMIM | 616040 | BTNT | validated | |
| OMIM | 616224 | BTNT | validated | |
| OMIM | 616227 | BTNT | validated | |
| OMIM | 616228 | BTNT | validated | |
| OMIM | 616304 | BTNT | validated | |
| OMIM | 616313 | BTNT | validated | |
| OMIM | 616314 | BTNT | validated | |
| OMIM | 616321 | BTNT | validated | |
| OMIM | 616322 | BTNT | validated | |
| OMIM | 616323 | BTNT | validated | |
| OMIM | 616324 | BTNT | validated | |
| OMIM | 616325 | BTNT | validated | |
| OMIM | 616326 | BTNT | validated | |
| OMIM | 616330 | BTNT | validated | |
| OMIM | 616720 | BTNT | validated | |
| OMIM | 617143 | BTNT | validated | |
| OMIM | 617239 | BTNT | validated | |
| OMIM | 618197 | BTNT | validated | |
| OMIM | 618198 | BTNT | validated | |
| OMIM | 618323 | BTNT | validated | |
| OMIM | 619461 | BTNT | validated | |
| OMIM | 620451 | BTNT | validated | |
| OMIM | 621455 | NTBT | validated | |
| ICD-10 | G70.2 | E | specific | validated |
| ICD-11 | 8C61 | E | specific | validated |
| MONDO | 0018940 | E | validated | |
| MeSH | D020294 | E | validated | |
| UMLS | C0751882 | E | validated | |
| GARD | 11902 | E | validated | |
| MedDRA | 10083942 | 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 (4):
- ORPHA:98495Genetic neuromuscular junction disease
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:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:98124OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect referred to · inactive
4
Genes
0 direct · 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| COL13A1 | ORPHA:98915Synaptic congenital myasthenic syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2190 | ENSG00000197467 | 120350 | 10q22.1 | collagen type XIII alpha 1 chain | 26626625[PMID] |
| COLQ | ORPHA:98915Synaptic congenital myasthenic syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:2226 | ENSG00000206561 | 603033 | 3p25.1 | collagen like tail subunit of asymmetric acetylcholinesterase | 20301347[PMID] |
| LAMB2 | ORPHA:98915Synaptic congenital myasthenic syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:6487 | ENSG00000172037 | 150325 | 3p21.31 | laminin subunit beta 2 | 19251977[PMID]_25792100[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.92 / 100 000 | United Kingdom | Value and class | Validated | 24500997[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
68 annotations · validated 2018-07-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002015 | Dysphagia | |
| HP:0003473 | Fatigable weakness | |
| HP:0011968 | Feeding difficulties | |
| HP:0004661 | Frontalis muscle weakness | |
| HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | |
| HP:0000467 | Neck muscle weakness | |
| HP:0002033 | Poor suck | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0000508 | Ptosis | |
| HP:0002882 | Sudden episodic apnea | |
| Frequent (79-30%) | ||
| HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0001251 | Ataxia | |
| HP:0001283 | Bulbar palsy | |
| HP:0010536 | Central sleep apnea | |
| HP:0030842 | Choking episodes | |
| HP:0000961 | Cyanosis | |
| HP:0001558 | Decreased fetal movement | |
| HP:0100285 | EMG: impaired neuromuscular transmission | |
| HP:0003388 | Easy fatigability | |
| HP:0004885 | Episodic respiratory distress | |
| HP:0001288 | Gait disturbance | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0001611 | Hypernasal speech | |
| HP:0001249 | Intellectual disability | |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0011469 | Nasal regurgitation | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0008443 | Spinal deformities | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0003693 | Distal amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0001618 | Dysphonia | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0000276 | Long face | |
| HP:0001270 | Motor delay | |
| HP:0012801 | Narrow jaw | |
| HP:0001761 | Pes cavus | |
| HP:0002421 | Poor head control | |
| HP:0001250 | Seizure | |
| HP:0003306 | Spinal rigidity | |
| HP:0010307 | Stridor | |
| HP:0030051 | Tip-toe gait | |
| HP:0002515 | Waddling gait | |
| HP:0001612 | Weak cry | |
| Very rare (<4-1%) | ||
| HP:0001374 | Congenital hip dislocation | |
| HP:0000651 | Diplopia | |
| HP:0002392 | EEG with polyspike wave complexes | |
| HP:0000565 | Esotropia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001265 | Hyporeflexia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000369 | Low-set ears | |
| HP:0000308 | Microretrognathia | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0000639 | Nystagmus | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000768 | Pectus carinatum | |
| HP:0001561 | Polyhydramnios | |
| HP:0005943 | Respiratory arrest | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0025401 | Staring gaze | |
| Excluded (0%) | ||
| HP:0030208 | Acetylcholine receptor antibody positivity | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 22353287[PMID]_15145336[PMID]_18707767[PMID]_25381298[PMID]_11172068[PMID]_25192047[PMID]_19631309[PMID]_26626625[PMID]_27569547[PMID]_27590285[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/590
- This record as JSON: /data/d/590.json