{"orpha":45448,"name":"Miyoshi myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-45448/","orphanet_url":"https://www.orpha.net/en/disease/detail/45448","names":{"fr":{"name":"Myopathie distale type Miyoshi","definition":"Une myopathie distale récessive caractérisée par une faiblesse du compartiment postérieur de l'extrémité inférieure distale (muscles gastrocnémiens et soléaires) et associée à des difficultés à se tenir sur la pointe des pieds."},"de":{"name":"Miyoshi-Myopathie","definition":"Eine autosomal-rezessive distale Myopathie, die durch Schwäche im hinteren Kompartiment der distalen unteren Extremitäten (Gastrocnemius- und Soleus-Muskeln) gekennzeichnet ist und mit Schwierigkeiten beim Stehen auf den Zehenspitzen einhergeht."},"es":{"name":"Miopatía de Miyoshi","definition":"Es una miopatía distal recesiva caracterizada por debilidad en el compartimento posterior de las extremidades inferiores distales (músculos gastrocnemio y sóleo) asociada a dificultades para mantenerse de puntillas."},"it":{"name":"Miopatia di Miyoshi","definition":"La miopatia di Miyoshi (MM) è una miopatia distale recessiva caratterizzata da debolezza nella porzione posteriore e distale degli arti inferiori (muscoli gastrocnemio e soleo), associata a difficoltà a sollevarsi sulla punta dei piedi."},"nl":{"name":"Miyoshi myopathie","definition":"Een recessieve distale myopathie die gekarakteriseerd wordt door zwakte in het posterieure deel van de distale onderste ledematen (de oppervlakkige kuitspier of musculus gastrocnemius en de scholspier of musculus soleus) en geassocieerd is met moeite om op de tippen van de tenen te staan."},"pt":{"name":"Miopatia de Miyoshi"},"pl":{"name":"Miopatia Miyoshi"},"cs":{"name":"Miyoshiho myopatie"},"uk":{"name":"Міопатія Мійоші","definition":"A recessive distal myopathy characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes."},"zh":{"name":"Miyoshi肌病"},"tr":{"name":"Miyoshi miyopatisi"}},"xrefs":[{"source":"OMIM","code":"254130","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613318","qualifier":"BTNT","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":"1844018161"},{"source":"MONDO","code":"0009685","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537480","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5553104","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9676","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206653,"name":"Autosomal recessive distal myopathy","classifications":[156,181]},{"orpha":207073,"name":"Qualitative or quantitative defects of dysferlin","classifications":[156]}],"children":[],"genes":[{"symbol":"DYSF","name":"dysferlin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18853459[PMID]","hgnc":"3097","ensembl":"ENSG00000135636","omim":"603009","loci":["2p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Japan","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-16","source":"20301480[PMID]_22468107[PMID]_19528035[PMID]_30626655[PMID]","terms":[{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","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: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:0003749","label":"Pelvic girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011399","label":"Tibialis atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008963","label":"Tibialis muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008981","label":"Calf muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200101","label":"Decreased/absent ankle reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031108","label":"Triceps weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Excluded (0%)","criteria":null}]}}