{"orpha":98897,"name":"Oculopharyngodistal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OPDM","Oculopharyngeal distal myopathy"],"definition":"A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98897/","orphanet_url":"https://www.orpha.net/en/disease/detail/98897","names":{"fr":{"name":"Myopathie oculo-pharyngo-distale","synonyms":["Myopathie oculo-pharyngée distale","OPDM"],"definition":"Une maladie génétique neuromusculaire rare caractérisée par une faiblesse progressive des muscles pharyngés, faciaux et oculaires externes, conduisant à divers degrés de ptosis, d'ophtalmoparésie, d'atrophie musculaire faciale, de dysarthrie et de dysphagie, ainsi que par une faiblesse musculaire distale et une atrophie des extrémités supérieures et inférieures. L'atteinte des muscles respiratoires est fréquente. Dans de rares cas, une surdité neurosensorielle, une faiblesse asymétrique des extrémités et une faiblesse proximale sévère sont rapportées."},"de":{"name":"Myopathie, okulo-pharyngo-distale","synonyms":["OPDM"],"definition":"Eine seltene, genetisch bedingte neuromuskuläre Erkrankung, die durch eine fortschreitende Schwäche der äußeren Augen-, Gesichts- und Rachenmuskulatur gekennzeichnet ist und zu Ptosis, Ophthalmoparese, Gesichtsmuskelatrophie, Dysarthrie und Dysphagie in unterschiedlichem Ausmaß, sowie zu distaler Muskelschwäche und Atrophie der unteren und oberen Extremitäten führt. Eine Beteiligung der Atemmuskulatur ist häufig, aber sensorineurale Schwerhörigkeit, asymmetrische Extremitätenschwäche und schwere proximale Schwäche sind selten."},"es":{"name":"Miopatía oculofaringodistal","synonyms":["Miopatía oculofaringea distal","OPDM"],"definition":"Es una enfermedad neuromuscular genética poco frecuente caracterizada por debilidad muscular progresiva extraocular, facial y faríngea, que conduce a diferentes grados de ptosis, oftalmoparesia, atrofia muscular facial, disartria y disfagia, así como debilidad muscular distal y atrofia de extremidades superiores e inferiores. La afectación de los músculos respiratorios es habitual, pero la pérdida auditiva neurosensorial, la debilidad asimétrica de extremidades y la debilidad proximal grave son infrecuentes."},"it":{"name":"Miopatia oculo-faringo-distale","synonyms":["Miopatia oculo-faringea distale","OPDM"],"definition":"La miopatia oculo-faringo-distale è una malattia neuromuscolare genetica rara, caratterizzata da debolezza progressiva dei muscoli facciali, faringei e oculari esterni, che comporta espressioni variabili di ptosi palpebrale, oftalmoparesi, atrofia dei muscoli facciali, disartria e disfagia; si associano la debolezza dei muscoli distali e l'atrofia degli arti inferiori e superiori. È comune l'interessamento dei muscoli respiratori, mentre sono rare la sordità neurosensoriale, la debolezza asimmetrica degli arti e la grave debolezza prossimale."},"nl":{"name":"Oculofaryngodistale myopathie","synonyms":["OPDM","Oculofaryngeale distale myopathie"],"definition":"Een zeldzame, genetische, neuromusculaire ziekte, gekarakteriseerd door progressieve externe oculaire, faciale en faryngeale spierzwakte die leidt tot variabele gradaties van ptose, oftalmoparese, atrofie van aangezichtsspieren, dysartrie en dysfagie, alsook distale spierzwakte en -atrofie van onderste en bovenste ledematen. Betrokkenheid van ademhalingsspieren komt geregeld voor, maar sensorineuraal gehoorverlies, asymmetrische zwakte van ledematen en ernstige proximale zwakte zijn zeldzaam."},"pt":{"name":"Miopatia oculofaringodistal"},"pl":{"name":"Miopatia oczno-gardłowo-dystalna","synonyms":["Miopatia oczno-gardłowa dystalna","OPDM"]},"cs":{"name":"Distální okulofaryngeální myopatie","synonyms":["OPDM","Okulofaryngeální distální myopatie"]},"uk":{"name":"Окулофарингодистальна міопатія","synonyms":["Дистальна міопатія окологлоткового відділу","OPDM"],"definition":"A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare."},"zh":{"name":"眼咽远端型肌病","synonyms":["眼咽型远端肌病"],"definition":"该病是一种罕见的遗传性神经肌肉疾病，特征为进行性眼外肌、面部和咽部肌肉无力，导致不同程度的上睑下垂、眼球麻痹、面部肌肉萎缩、构音障碍和吞咽困难，以及下肢和上肢远端肌肉无力和萎缩。呼吸肌受累很常见，但感音神经性听力丧失、不对称四肢无力和严重的近端无力却很少见。"},"tr":{"name":"Okülofaringodistal miyopati","synonyms":["OPDM","Okülofarengeal distal miyopati"]}},"xrefs":[{"source":"OMIM","code":"164310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618637","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618940","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619473","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619790","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621446","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9C82.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1493269618"},{"source":"MONDO","code":"0025193","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563508","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834014","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12592","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]},{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]}],"children":[],"genes":[{"symbol":"ABCD3","name":"ATP binding cassette subfamily D member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39068203[PMID]","hgnc":"67","ensembl":"ENSG00000117528","omim":"170995","loci":["1p21.3"]},{"symbol":"GIPC1","name":"GIPC PDZ domain containing family member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33374016[PMID]","hgnc":"1226","ensembl":"ENSG00000123159","omim":"605072","loci":["19p13.12"]},{"symbol":"LRP12","name":"LDL receptor related protein 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31332380[PMID]","hgnc":"31708","ensembl":"ENSG00000147650","omim":"618299","loci":["8q22.3"]},{"symbol":"NOTCH2NLC","name":"notch 2 N-terminal like C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33693509[PMID]","hgnc":"53924","ensembl":"ENSG00000286219","omim":"618025","loci":["1q21.2"]},{"symbol":"NUTM2B-AS1","name":"NUTM2B antisense RNA 1","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37923380[PMID]","hgnc":"51204","ensembl":"ENSG00000225484","omim":"618639","loci":["10q22.3"]},{"symbol":"RILPL1","name":"Rab interacting lysosomal protein like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35700120[PMID]","hgnc":"26814","ensembl":"ENSG00000188026","omim":"614092","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-10","source":"164310[PMID]_836191[PMID]_9608566[PMID]_15377709[PMID]_21242490[PMID]_26039504[PMID]","terms":[{"hpo":"HP:0000301","label":"Abnormality of facial musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008376","label":"Nasal, dysarthic speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007838","label":"Progressive ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0430015","label":"Abnormal morphology of musculature of pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008756","label":"Bowing of the vocal cords","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007149","label":"Distal upper limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031162","label":"Impaired oropharyngeal swallow response","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000183","label":"Tongue muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001604","label":"Vocal cord paresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:3000005","label":"Abnormality of masseter muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030192","label":"Fatigable weakness of bulbar muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008963","label":"Tibialis muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000010","label":"Abnormality of orbicularis oris muscle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Very rare (<4-1%)","criteria":null}]}}