{"orpha":606,"name":"Proximal myotonic myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Myotonic dystrophy type 2","Proximal myotonic dystrophy","Ricker disease","Ricker syndrome"],"definition":"A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-606/","orphanet_url":"https://www.orpha.net/en/disease/detail/606","names":{"fr":{"name":"Myopathie myotonique proximale","synonyms":["Dystrophie myotonique proximale","Dystrophie myotonique type 2","Maladie de Ricker","Syndrome de Ricker"],"definition":"Dystrophie myotonique rare d'apparition juvénile ou adulte caractérisée par une myotonie légère et fluctuante, une faiblesse musculaire et, rarement, des troubles de la conduction cardiaque."},"de":{"name":"Myopathie, myotone proximale","synonyms":["Dystrophie, myotone proximale","Dystrophie, myotone, Typ 2","PROMM","Ricker-Syndrom"],"definition":"Eine seltene myotone Dystrophie im Jugend- oder Erwachsenenalter, die durch eine leichte und fluktuierende Myotonie, Muskelschwäche und selten durch kardiale Überleitungsstörungen gekennzeichnet ist."},"es":{"name":"Miopatía miotónica proximal","synonyms":["Distrofia miotónica proximal","Distrofia miotónica tipo 2","Enfermedad de Ricker","Síndrome de Ricker"],"definition":"Es una distrofia miotónica poco frecuente de inicio juvenil o en la edad adulta caracterizada por miotonía leve y fluctuante, debilidad muscular y, excepcionalmente, trastornos de la conducción cardíaca."},"it":{"name":"Miopatia miotonica prossimale","synonyms":["Distrofia miotonica prossimale","Distrofia miotonica, tipo 2","Malattia di Ricker","Sindrome di Ricker"],"definition":"La miopatia miotonica prossimale è una distrofia miotonica rara che esordisce nell'età giovanile o in quella adulta con miotonia lieve e intermittente, debolezza muscolare e, raramente, difetti della conduzione cardiaca."},"nl":{"name":"Proximale myotone myopathie","synonyms":["Myotone dystrofie type 2","Proximale myotone dystrofie","Syndroom van Ricker","Ziekte van Ricker"],"definition":"Een zeldzame myotone dystrofie met juveniele of volwassen aanvang, gekarakteriseerd door milde en fluctuerende myotonie, spierzwakte, en zelden hartgeleidingsstoornissen."},"pt":{"name":"Miopatia miotónica proximal","synonyms":["Distrofia miotónica proximal","Distrofia miotónica tipo 2","Síndrome Ricker"],"definition":"A miopatia miotónica proximal é uma doença multissistémica caracterizada pela associação de fraqueza muscular proximal com miotonia, manifestações cardíacas e cataratas."},"pl":{"name":"Dystrofia miotoniczna typu 2","synonyms":["Choroba Rickera","Miotoniczna dystrofia typu 2","Proksymalna dystrofia miotoniczna","Zespół Rickera"],"definition":"Rzadka dystrofia miotoniczna o początku młodzieńczym lub dorosłym, charakteryzująca się łagodną i zmienną miotonią, osłabieniem mięśni i rzadko zaburzeniami przewodzenia w sercu."},"cs":{"name":"Myotonická dystrofie, typ 2","synonyms":["Proximální myotonická myopatie","Proximální myotonická dystrofie","Rickerova nemoc","Rickerův syndrom"]},"uk":{"name":"Проксимальна міотонічна міопатія","synonyms":["Міотонічна дистрофія 2 типу","Проксимальна міотонічна дистрофія","Хвороба Рікера","Синдром Рікера"],"definition":"A rare myotonic dystrophy of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders."},"zh":{"name":"近位肌强直肌病","synonyms":["近端强直性肌营养不良"]},"tr":{"name":"Proksimal miyotonik miyopati","synonyms":["Ricker hastalığı","Ricker sendromu","Miyotonik distrofi tip 2","Proksimal miyotonik distrofi"]}},"xrefs":[{"source":"OMIM","code":"602668","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C71.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1005849639"},{"source":"MONDO","code":"0011266","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931689","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9728","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206647,"name":"Myotonic dystrophy","classifications":[156,181]},{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"CNBP","name":"CCHC-type zinc finger nucleic acid binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301639[PMID]","hgnc":"13164","ensembl":"ENSG00000169714","omim":"116955","loci":["3q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Germany","status":"Validated","source":"12921797[PMID]_12970845[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Finland","status":"Validated","source":"16684600[PMID]_22995693[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-14","source":"20301639[PMID]_33458578[PMID]","terms":[{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008189","label":"Insulin insensitivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002926","label":"Abnormality of thyroid physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001348","label":"Brisk reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012452","label":"Restless legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null}]}}