{"orpha":98914,"name":"Presynaptic congenital myasthenic syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Congenital myasthenic syndrome","url":"https://raremap.alftech.space/d/ORPHA-98914/","orphanet_url":"https://www.orpha.net/en/disease/detail/98914","names":{"fr":{"name":"Syndrome myasthénique congénital pré-synaptique"},"de":{"name":"Präsynaptisches kongenitales myasthenes Syndrom"},"es":{"name":"Síndromes miasténicos congénitos presinápticos"},"it":{"name":"Sindrome miastenica congenita presinaptica"},"nl":{"name":"Presynaptisch congenitaal myastheen syndroom"},"pt":{"name":"Síndromes miasténicos, congénitos, pré-sinápticos"},"pl":{"name":"Wrodzone presynaptyczne zespoły miasteniczne"},"cs":{"name":"Presynaptické vrozené myastenické syndromy"},"uk":{"name":"Пресинаптичні вроджені міастенічні синдроми"},"zh":{"name":"突触前性先天性肌无力综合征"},"tr":{"name":"Presinaptik doğumsal miyastenik sendromlar"}},"xrefs":[{"source":"OMIM","code":"254210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616040","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616224","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616330","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617143","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617239","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618198","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618323","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619461","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621455","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G70.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C61","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1231819833"},{"source":"UMLS","code":"C0751884","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":590,"name":"Congenital myasthenic syndrome","classifications":[147,156,181,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":716889,"name":"Congenital myasthenic syndrome due to defective axonal transport","type":"Etiological subtype"},{"orpha":719921,"name":"Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction","type":"Etiological subtype"},{"orpha":716899,"name":"Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis","type":"Etiological subtype"},{"orpha":716893,"name":"Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-04","source":"22353287[PMID]_15145336[PMID]_18707767[PMID]_25381298[PMID]_11172068[PMID]_25192047[PMID]_19631309[PMID]_26626625[PMID]_27569547[PMID]_27590285[PMID]","terms":[{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003473","label":"Fatigable weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004661","label":"Frontalis muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004889","label":"Intermittent episodes of respiratory insufficiency due to muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002882","label":"Sudden episodic apnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002872","label":"Apneic episodes precipitated by illness, fatigue, stress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001283","label":"Bulbar palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010536","label":"Central sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030842","label":"Choking episodes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100285","label":"EMG: impaired neuromuscular transmission","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004885","label":"Episodic respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011469","label":"Nasal regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008443","label":"Spinal deformities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012801","label":"Narrow jaw","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002392","label":"EEG with polyspike wave complexes","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007178","label":"Motor polyneuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005943","label":"Respiratory arrest","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025401","label":"Staring gaze","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030208","label":"Acetylcholine receptor antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}