{"orpha":65684,"name":"Monomelic amyotrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Benign focal amyotrophy","Hirayama disease","JMADUE","Juvenile muscular atrophy of distal upper extremity","Juvenile muscular atrophy of the distal upper limb"],"definition":"Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65684/","orphanet_url":"https://www.orpha.net/en/disease/detail/65684","names":{"fr":{"name":"Amyotrophie monomélique","synonyms":["Amyotrophie focale bénigne","Atrophie musculaire distale juvénile des extrémités supérieures","Atrophie musculaire distale juvénile du membre supérieur","JMADUE","Maladie de Hirayama"],"definition":"L'amyotrophie monomélique (AM) est un trouble bénin des motoneurones moteurs inférieurs caractérisé par une faiblesse et une perte musculaires dans les membres supérieurs distaux pendant l'adolescence, suivie par un arrêt spontané de la progression et une stabilisation des symptômes."},"de":{"name":"Amyotrophie, monomelische","synonyms":["Amyotrophie, benigne fokale","Hirayama-Krankheit","JMADUE","Juvenile Muskelatrophie der distalen oberen Gliedmaßen"],"definition":"Die Monomelische Amyotrophie (MA) ist eine seltene, benigne Erkrankung der unteren Motorneuronen. Sie ist gekennzeichnet durch Muskelschwäche und -atrophie in den distalen oberen Extremitäten. Die Symptome beginnen in der Adoleszenz, die Progredienz der Krankheit kommt spontan zum Stillstand, und die Symptome bleiben dann stabil."},"es":{"name":"Atrofia monomélica","synonyms":["JMADUE","Amiotrofia focal benigna","Atrofia muscular juvenil de las extremidades superiores distales","Enfermedad de Hirayama"],"definition":"La amiotrofia monomélica (AM) es un raro trastorno benigno de la neurona motora inferior que se caracteriza por debilidad y atrofia muscular en la parte distal de las extremidades superiores durante la adolescencia, seguido de una detención espontánea de su progresión y una estabilización de los síntomas."},"it":{"name":"Amiotrofia monomelica","synonyms":["Amiotrofia focale benigna","Atrofia muscolare distale giovanile dell'estremità superiore","Atrofia muscolare giovanile distale dell'arto superiore","JMADUE","Malattia di Hirayama"],"definition":"L'amiotrofia monomelica (MA) è una malattia benigna rara dei motoneuroni, caratterizzata da debolezza muscolare e atrofia delle estremità distali degli arti superiori durante l'adolescenza, con un successivo arresto spontaneo nella progressione e una stabilizzazione dei sintomi."},"nl":{"name":"Monomelische amyotrofie","synonyms":["Goedaardige focale amyotrofie","JMADUE","Juveniele musculaire atrofie van de distale bovenste ledematen","Juveniele musculaire atrofie van distale bovenste extremiteit","Juveniele spieratrofie van de distale bovenste ledematen","Juveniele spieratrofie van distale bovenste extremiteit","Ziekte van Hirayama"],"definition":"Een zeldzame goedaardige aandoening van lagere motorische neuronen, gekenmerkt door spierzwakte en -atrofie in distale bovenste extremiteiten tijdens de adolescentie, gevolgd door spontane stilstand van de progressie en stabilisatie van symptomen."},"pt":{"name":"Amiotrofia monomélica","synonyms":["Amiotrofia focal benigna","Atrofia muscular distal do membro superior, juvenil","Doença de Hirayama"]},"pl":{"name":"Amiotrofia monomeliczna","synonyms":["Choroba Hirayama","JMADUE","Łagodna ogniskowa amiotrofia","Młodzieńcza atrofia mięśni dystalnych kończyn górnych"]},"cs":{"name":"Monomelická amyotrofie","synonyms":["Benigní fokální amyotrofie","Hirayamova choroba","JMADUE","Juvenilní svalová atrofie horní končetiny distálně"]},"uk":{"name":"Мономелічна аміотрофія","synonyms":["Доброякісна фокальна аміотрофія","Хвороба Хіраяма","JMADUE","Ювенільна мязова атрофія дистального відділу верхньої кінцівки","Ювенільна мязова атрофія дистального відділу верхньої кінцівки"],"definition":"Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms."},"zh":{"name":"单肢肌萎缩","synonyms":["青少年上肢远端肌萎缩症"]},"tr":{"name":"Monomelik amiyotrofi","synonyms":["JMADUE","Hirayama hastalığı","Selim fokal amyotrofi","Distal üst ekstremitenin jüvenil kas atrofisi","Distal üst ekstremitenin jüvenil kas atrofisi"]}},"xrefs":[{"source":"OMIM","code":"602440","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B60.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2090347823"},{"source":"MONDO","code":"0011224","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538253","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865384","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9697","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10069681","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98506,"name":"Acquired motor neuron disease","classifications":[181]}],"children":[],"genes":[{"symbol":"CEP126","name":"centrosomal protein 126","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22264561[PMID]","hgnc":"29264","ensembl":"ENSG00000110318","omim":"614634","loci":["11q22.1"]},{"symbol":"CPLANE1","name":"ciliogenesis and planar polarity effector complex subunit 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22264561[PMID]","hgnc":"25801","ensembl":"ENSG00000197603","omim":"614571","loci":["5p13.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"22032508[PMID]","terms":[{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007149","label":"Distal upper limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002398","label":"Degeneration of anterior horn cells","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}