{"orpha":397744,"name":"MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Peripheral neuropathy-myopathy-hoarseness-deafness syndrome"],"definition":"Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397744/","orphanet_url":"https://www.orpha.net/en/disease/detail/397744","names":{"fr":{"name":"Syndrome de neuropathie périphérique-myopathie-raucité de la voix-surdité associée à MYH14","definition":"Surdité génétique syndromique rare caractérisée par une association de faiblesse musculaire, de signes de neuropathie et de myopathie chroniques, d'enrouement et de surdité neurosensorielle. Une importante disparité a été rapportée quant à l'âge d'apparition et la sévérité de la maladie, même au sein d'une même famille."},"de":{"name":"Periphere Neuropathie-Myopathie-Heiserkeit-Hörverlust-Syndrom, MYH14-assoziiertes","synonyms":["PNMHH","Periphere Neuropathie-Myopathie-Heiserkeit-Schwerhörigkeit-Syndrom"]},"es":{"name":"Síndrome de neuropatía periférica-miopatía-ronquera-hipoacusia asociado a MYH14","synonyms":["Síndrome de neuropatía periférica-miopatía-ronquera-sordera"],"definition":"El síndrome de neuropatía periférica - miopatía - ronquera - pérdida auditiva es una sordera genética sindrómica poco frecuente, caracterizada por una combinación de debilidad muscular, características neuropáticas y miopáticas crónicas, ronquera y pérdida auditiva neurosensorial. Se ha descrito una gran diversidad en cuanto a la edad de presentación y la gravedad, incluso dentro de la misma familia."},"it":{"name":"Sindrome neuropatia periferica-miopatia-raucedine-sordità correlata a MYH14","synonyms":["Sindrome neuropatia periferica-miopatia-voce roca-sordità"],"definition":"La sindrome che associa la neuropatia periferica, la miopatia, la raucedine e la sordità è una sordità sindromica genetica rara, caratterizzata da debolezza muscolare, segni neuropatici e miopatici cronici, raucedine e sordità neurosensoriale. L'età d'esordio e la gravità della malattia sono molto variabili, anche all'interno della stessa famiglia."},"nl":{"name":"MYH14-gerelateerd perifere neuropathie - myopathie - heesheid - gehoorverlies-syndroom","synonyms":["Perifere neuropathie - myopathie - heesheid - doofheid-syndroom"],"definition":"Perifere neuropathie - myopathie - heesheid - gehoorverlies-syndroom is een zeldzame, syndromale, genetische doofheid die gekarakteriseerd wordt door een combinatie van spierzwakte, chronische neuropathische en myopathische kenmerken, heesheid en sensorineuraal gehoorverlies. Er werd een zeer variabele aanvang en ernst van de ziekte gerapporteerd, zelfs binnen eenzelfde familie."},"pt":{"name":"Síndrome de neuropatia periférica-miopatia-rouquidão-perda auditiva"},"pl":{"name":"Zespół neuropatii obwodowej - miopatii - chrypki - niedosłuchu związany z MYH14","synonyms":["Zespół neuropatia obwodowa-miopatia-chrypka-głuchota"],"definition":"*Zespół neuropatia obwodowa-miopatia-chrypka-niedosłuch jest rzadkim, genetycznie uwarunkowanym zespołem z niedosłuchem, który charakteryzuje się współwystępowaniem osłabienia mięśni, przewlekłych objawów neuropatycznych i miopatycznych, chrypki i niedosłuchu zmysłowo-nerwowego. Opisywano występowanie zróżnicowanego początku i nasilenia objawów choroby, nawet w obrębie tej samej rodziny."},"cs":{"name":"Syndrom zahrnující periferní neuropatii, myopatii, chrapot a ztrátu sluchu","synonyms":["Syndrom zahrnující periferní neuropatii, myopatii, chrapot a hluchotu"]},"uk":{"name":"Синдром периферичної нейропатії-міопатії-охриплості-втрати слуху","synonyms":["Синдром периферичної нейропатії-міопатії-огрубілості-глухоти"],"definition":"Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family."},"zh":{"name":"周围神经病变-肌病-声音嘶哑-听力障碍综合征","synonyms":["周围神经病-疾病-声音嘶哑-耳聋综合征"],"definition":"周围神经病-肌病-声音嘶哑-听力损失综合征是一种罕见的综合征性遗传性耳聋，其特征是肌肉无力、慢性神经性和肌病特征、声音嘶哑和感觉神经性听力损失。即使在同一个家庭中，疾病的起病和严重程度也可有很大的跨度。"},"tr":{"name":"Periferik nöropati-miyopati-ses kısıklığı-işitme kaybı sendromu","synonyms":["Periferik nöropati-miyopati-ses kısıklığı-sağırlık sendromu"]}},"xrefs":[{"source":"OMIM","code":"614369","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013711","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190594","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140465,"name":"Autosomal dominant distal hereditary motor neuropathy","classifications":[156,181]},{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"MYH14","name":"myosin heavy chain 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21480433[PMID]","hgnc":"23212","ensembl":"ENSG00000105357","omim":"608568","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"21480433[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21480433[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-16","source":"21480433[PMID]","terms":[{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030774","label":"Mitochondrial swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010219","label":"Structural foot deformity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Excluded (0%)","criteria":null}]}}