{"orpha":399096,"name":"Distal anoctaminopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MMD3","Miyoshi muscular dystrophy type 3"],"definition":"Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-399096/","orphanet_url":"https://www.orpha.net/en/disease/detail/399096","names":{"fr":{"name":"Anoctaminopathie distale","synonyms":["Dystrophie musculaire de Miyoshi type 3","MMD3"],"definition":"Myopathie distale autosomique récessive rare caractérisée par une faiblesse musculaire des membres inférieurs, lentement progressive, souvent asymétrique, se manifestant au début de l'âge adulte et touchant d'abord les mollets (les muscles antérieurs étant relativement épargnés) et, plus tard, les muscles proximaux, ainsi que par des taux très élevés de créatine kinase (CK) sérique."},"de":{"name":"Anoctaminopathie, distale","synonyms":["MMD3","Miyoshi-Muskeldystrophie Typ 3"],"definition":"Die distale Anoctaminopathie ist eine seltene, autosomal-rezessiv vererbte distale Myopathie, die durch eine im frühen Erwachsenenalter einsetzende, langsam fortschreitende, oft asymmetrische Muskelschwäche der unteren Gliedmaßen gekennzeichnet ist, die zunächst die Waden (mit relativer Schonung der vorderen Muskeln) und später die proximalen Muskeln betrifft. Sie geht einher mit einem stark erhöhten Kreatinkinase (CK)-Wert."},"es":{"name":"Anoctaminopatía distal","synonyms":["Distrofia muscular de Miyoshi tipo 3","MMD3"],"definition":"La anoctaminopatía distal es una miopatía distal, autosómica recesiva, poco frecuente, caracterizada por debilidad muscular en las extremidades inferiores, de inicio en el adulto, de progresión lenta, a menudo asimétrica, que afecta inicialmente a las pantorrillas (con una relativa conservación del músculo anterior) y posteriormente se ve afectado el músculo proximal, así como niveles séricos muy elevados, de creatina kinasa."},"it":{"name":"Anoctaminopatia distale","synonyms":["Distrofia muscolare di Miyoshi, tipo 3","MMD3"],"definition":"L'anoctaminopatia distale è una miopatia distale rara autosomica recessiva ad esordio nella prima età adulta. È caratterizzata da debolezza dei muscoli degli arti inferiori spesso asimmetrica e a progressione lenta, che interessa inizialmente i polpacci (risparmiando relativamente il muscolo anteriore) e, successivamente, i muscoli prossimali, associata a livelli molto elevati di creatina chinasi (CK) nel siero."},"nl":{"name":"Distale anoctaminopathie","synonyms":["MMD3","Miyoshi spierdystrofie type 3"],"definition":"Distale anoctaminopathie is een zeldzame, autosomaal recessieve distale myopathie, en wordt gekarakteriseerd door aanvang in de vroege volwassenheid van traag progressieve, vaak asymmetrische zwakte van de onderste ledematen, die initieel de kuiten treft (waarbij de voorste spieren relatief gespaard blijven) en later ook proximale spieren, alsook door sterk verhoogde gehaltes van creatinekinase (CK) in het serum."},"pt":{"name":"Anoctaminopatia distal"},"pl":{"name":"Anoktaminopatia dystalna","synonyms":["Dystrofia mięśniowa Miyoshi typu 3","MMD3"]},"cs":{"name":"Distální anoktaminopatie","synonyms":["MMD3","Miyoshiho svalová dystrofie, typ 3"]},"uk":{"name":"Дистальна аноктамінопатія","synonyms":["Мязова дистрофія Мійоші, тип 3","MMD3"],"definition":"Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels."},"zh":{"name":"远端肌张力障碍","synonyms":["Miyoshi肌营养不良3型"],"definition":"远端无张力肌病是一种罕见的常染色体隐性遗传性远端肌病，其特征是起病早，进展缓慢，通常不对称，最初影响小腿(相对前肌保留)，后来近端肌肉受累，血清肌酸激酶(CK)水平高度升高。"},"tr":{"name":"Distal anoktaminopati","synonyms":["MMD3","Miyoshi kas distrofisi tip 3"]}},"xrefs":[{"source":"OMIM","code":"613319","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013222","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750076","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]}],"children":[],"genes":[{"symbol":"ANO5","name":"anoctamin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22980764[PMID]","hgnc":"27337","ensembl":"ENSG00000171714","omim":"608662","loci":["11p14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":24.0,"area":"Worldwide","status":"Validated","source":"9673985[PMID]_17132147[PMID]_22402862[PMID]_25864073[PMID]_23663589[PMID]_23606453[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9673985[PMID]_25864073[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-05","source":"9673985[PMID]","terms":[{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003323","label":"Progressive muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030234","label":"Highly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003707","label":"Calf muscle pseudohypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009049","label":"Peroneal muscle atrophy","frequency":"Excluded (0%)","criteria":null}]}}