{"orpha":2596,"name":"Myopathy and diabetes mellitus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2596/","orphanet_url":"https://www.orpha.net/en/disease/detail/2596","names":{"fr":{"name":"Syndrome de myopathie-diabète sucré","definition":"Myopathie rare d'origine génétique due à une mutation de l'ADN mitochondrial, caractérisée par une faiblesse musculaire à progression lente (atteinte des muscles proximaux plus importante que celle des muscles distaux), touchant principalement les muscles du visage et de la ceinture scapulaire, associée à un diabète sucré insulinodépendant. Une atteinte neurologique et une myopathie congénitale peuvent être observées dans certains cas."},"de":{"name":"Myopathie - Diabetes mellitus"},"es":{"name":"Miopatía con diabetes mellitus","definition":"Es una miopatía mitocondrial relacionada con el ADN mitocondrial caracterizada por debilidad muscular lentamente progresiva (más proximal que distal), que afecta principalmente a los músculos faciales y de la cintura escapular, asociado a diabetes mellitus dependiente de insulina. Se puede observar afectación neurológica y miopatía congénita de forma variable."},"it":{"name":"Miopatia e diabete mellito","definition":"È una miopatia genetica rara correlata al DNA mitocondriale, caratterizzata da debolezza muscolare progressiva (più marcata quella prossimale rispetto a quella distale), che interessa soprattutto i muscoli facciali e i cingoli scapolari, associata a diabete mellito insulino-dipendente. Alcuni pazienti mostrano un interessamento neurologico e miopatia congenita di grado variabile."},"nl":{"name":"Myopathie en diabetes mellitus","definition":"Een zeldzame, genetische, mitochondriale myopathie gerelateerd aan mitochondriaal DNA die wordt gekarakteriseerd door traag progressieve spierzwakte (proximaal groter dan distaal), voornamelijk van de gelaatsspieren en schoudergordel, geassocieerd met insuline-afhankelijke diabetes mellitus. Neurologische betrokkenheid en congenitale myopathie kunnen variabel waargenomen worden."},"pt":{"name":"Miopatia e diabetes mellitus"},"pl":{"name":"Miopatia i cukrzyca"},"cs":{"name":"Myopatie a diabetes mellitus"},"uk":{"name":"Міопатія та цукровий діабет","definition":"A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed."},"zh":{"name":"肌病-糖尿病"},"tr":{"name":"Miyopati ve diabetes mellitus"}},"xrefs":[{"source":"OMIM","code":"500002","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C73.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1930317843"},{"source":"MONDO","code":"0010773","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191051","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3881","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":254788,"name":"Mitochondrial DNA-related mitochondrial myopathy","classifications":[150,156]},{"orpha":206953,"name":"Muscular lipidosis","classifications":[156,181]},{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]}],"children":[],"genes":[{"symbol":"MT-TE","name":"mitochondrially encoded tRNA-Glu (GAA/G)","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15048886[PMID]","hgnc":"7479","ensembl":"ENSG00000210194","omim":"590025","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-25","source":"9212319[PMID]_15607216[PMID]_5463538[PMID]_7726154[PMID]_15048886[PMID]_6329761[PMID]_7229664[PMID]_4114165[PMID]_4716844[PMID]_7726155[PMID]","terms":[{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003756","label":"Skeletal myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012391","label":"Hyporeflexia of upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012036","label":"Sternocleidomastoid amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012507","label":"Weakness of orbicularis oculi muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001771","label":"Achilles tendon contracture","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031258","label":"Delirium","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}