{"orpha":600,"name":"Vocal cord and pharyngeal distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Distal myopathy with vocal cord weakness","MATR3-related distal myopathy","VCPDM"],"definition":"Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-600/","orphanet_url":"https://www.orpha.net/en/disease/detail/600","names":{"fr":{"name":"Myopathie distale avec faiblesse des cordes vocales","definition":"Myopathie distale autosomique dominante rare caractérisée par une faiblesse musculaire apparaissant à l'âge adulte, affectant les pieds et les mains (progressant lentement pour atteindre les muscles proximaux des membres), associée à un dysfonctionnement de la voix ou de la déglutition et, aux stades avancés, à une atteinte fréquente des muscles respiratoires. Les examens biologiques et histologiques montrent des taux sériques de créatine kinase (CK) normaux ou légèrement élevés et des modifications dystrophiques dans les fibres musculaires et la présence de vacuoles encerclées."},"de":{"name":"Distale Myopathie mit Stimmband- und Pharynxschwäche","synonyms":["Distale Myopathie, MATR3-assoziierte","Myopathie, distale, mit Stimmbandschwäche","Myopathie, distale, mit pharyngealer und Stimmbandschwäche","VCPDM","Vokale und pharyngeale distale Myopathie"],"definition":"Die distale Myopathie mit Stimmband- und Pharynxschwäche (VCPDM) ist eine seltene autosomal-dominante distale Myopathie, die durch eine im Erwachsenenalter beginnende Muskelschwäche in den Füßen und Händen (die langsam fortschreitet und die proximalen Gliedmaßenmuskeln mit einbezieht) in Kombination mit einer Stimm- oder Schluckstörung und einer häufigen Beteiligung der Atemmuskulatur in späteren Stadien gekennzeichnet ist. Normale bis leicht erhöhte Kreatinkinase (CK)-Serumspiegel und dystrophische Muskelfaserveränderungen mit umrandeten ('rimmed') Vakuolen sind assoziierte Labor- und pathologische Befunde."},"es":{"name":"Miopatía distal faríngea y de cuerdas vocales","synonyms":["Miopatía distal asociada a MATR3","Miopatía distal con debilidad de las cuerdas vocales","VCPDM"],"definition":"La miopatía distal faríngea y de cuerdas vocales (VCPDM, por sus siglas en inglés), es una miopatía distal autosómica dominante poco frecuente, caracterizada por la aparición en la edad adulta de debilidad muscular en pies y manos (que progresa lentamente hasta implicar a los músculos de las extremidades proximales) combinada con trastorno en la deglución o disfunción de cuerdas vocales y una afectación respiratoria frecuente en etapas posteriores. Los hallazgos patológicos y de laboratorio son concentraciones séricas de creatina quinasa (CK) que van de normal a ligeramente elevadas, y cambios distróficos de la fibra muscular vacuolada-ribeteada."},"it":{"name":"Miopatia distale con debolezza delle corde vocali e della faringe","definition":"La miopatia distale con debolezza delle corde vocali e della faringe (VCPDM) è una miopatia distale rara autosomica dominante, che esordisce nell'età adulta con debolezza dei muscoli dei piedi e delle mani (che progredisce lentamente interessando anche i muscoli prossimali degli arti), associata a disfunzione vocale o della deglutizione e, negli stadi più avanzati, ad un frequente coinvolgimento dei muscoli respiratori. Gli esami di laboratorio ed istologici evidenziano livelli normali o lievemente elevati di creatina chinasi (CK) nel siero ed alterazioni distrofiche delle fibre muscolari con presenza di vacuoli cerchiati."},"nl":{"name":"Distale myopathie van stembanden en farynx","synonyms":["Distale myopathie met stembandzwakte","MATR3-gerelateerde distale myopathie","VCPDM"],"definition":"Distale myopathie van stembanden en farynx (VCPDM) is een zeldzame autosomaal dominante distale myopathie die gekarakteriseerd wordt door aanvang in de volwassenheid van spierzwakte in voeten en handen (met trage progressie naar proximale spieren van ledematen), gecombineerd met stem- of slikdisfunctie en frequente betrokkenheid van ademhalingsspieren in latere stadia. Normaal tot mild verhoogd gehalte van creatinekinase (CK) in het serum en dystrofische veranderingen aan en omrande vacuolen in spiervezels zijn geassocieerde laboratorium- en pathologische bevindingen."},"pt":{"name":"Miopatia distal com fraqueza das cordas vocais"},"pl":{"name":"Miopatia dystalna z osłabieniem fałdów głosowych","synonyms":["Distal myopathy with vocal cord weakness","MATR3-related distal myopathy","VCPDM"]},"cs":{"name":"Distální myopatie se slabostí hlasivek","synonyms":["Distal myopathy with vocal cord weakness","MATR3-related distal myopathy","VCPDM"]},"uk":{"name":"Дистальна міопатія голосових звязок і глотки","synonyms":["Дистальна міопатія зі слабкістю голосових звязок","Дистальна міопатія, повязана з MATR3","VCPDM"],"definition":"Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings."},"zh":{"name":"声带咽远端型肌病","synonyms":["远端型肌病症伴声带松弛"]},"tr":{"name":"Ses teli ve faringeal distal miyopati","synonyms":["GBGBM","MATR3-ilişkili distal miyopati","Vokal kord zayıflığı ile seyreden distal miyopati"]}},"xrefs":[{"source":"OMIM","code":"606070","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C75","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1133125258"},{"source":"MONDO","code":"0018951","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565262","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853723","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1887","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]}],"children":[],"genes":[{"symbol":"MATR3","name":"matrin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19344878[PMID]","hgnc":"6912","ensembl":"ENSG00000015479","omim":"164015","loci":["5q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25952333[PMID]_29628183[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-28","source":"9837826[PMID]_24686783[PMID]_25154462[PMID]","terms":[{"hpo":"HP:0430015","label":"Abnormal morphology of musculature of pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001430","label":"Abnormality of the calf musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007354","label":"Amyotrophic lateral sclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031374","label":"Ankle weakness","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002835","label":"Aspiration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008756","label":"Bowing of the vocal cords","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001283","label":"Bulbar palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005934","label":"Imperfect vocal cord adduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003805","label":"Rimmed vacuoles","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001604","label":"Vocal cord paresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008049","label":"Abnormality of the extraocular muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007149","label":"Distal upper limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009071","label":"Inflammatory myopathy","frequency":"Excluded (0%)","criteria":null}]}}