{"orpha":254854,"name":"Pure mitochondrial myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254854/","orphanet_url":"https://www.orpha.net/en/disease/detail/254854","names":{"fr":{"name":"Myopathie mitochondriale pure","definition":"La myopathie mitochondriale pure est une maladie mitochondriale rare caractérisée par une atteinte exclusive des muscles squelettiques, sans preuve clinique d'une autre atteinte d'organe. Elle se manifeste par une faiblesse progressive des membres, une atrophie proximale des membres et des anomalies des muscles oculaires (restriction de la motilité oculaire, ptosis). Les patients peuvent présenter une acidose lactique, une myalgie diffuse, et une fatigabilité générale (surtout pendant/après des activités physiques), une dysphagie et une diminution des réflexes tendineux profonds."},"de":{"name":"Myopathie, mitochondriale, reine","definition":"Eine seltene mitochondriale Erkrankung, die durch eine ausschließliche Skelettmuskelbeteiligung gekennzeichnet ist, ohne klinische Anzeichen für eine Beteiligung anderer Organe. Sie manifestiert sich durch eine fortschreitende Schwäche der Gliedmaßen, Muskelatrophie der proximalen Gliedmaßen und Augenmuskelanomalien (z. B. Einschränkung der Augenmotilität, Ptosis). Die Patienten können sich mit Laktatazidose, diffuser Myalgie und allgemeiner Ermüdbarkeit (insbesondere während/nach körperlichen Aktivitäten), Dysphagie und verminderten tiefen Sehnenreflexen präsentieren."},"es":{"name":"Miopatía mitocondrial pura","definition":"La miopatía mitocondrial pura es una enfermedad mitocondrial poco frecuente caracterizada por una afectación exclusiva en musculatura esquelética, sin evidencia clínica de otra afectación orgánica, manifestándose con debilidad progresiva de las extremidades, atrofia de los músculos proximales de las extremidades y anomalías de los músculos oculares (p.ej. restricción de la motilidad ocular, ptosis). Los afectados pueden presentarse con acidosis láctica, mialgia difusa y fatiga generalizada (especialmente durante/después de realizar una actividad física), disfagia y una disminución de los reflejos tendinosos profundos."},"it":{"name":"Miopatia mitocondriale pura","definition":"La miopatia mitocondriale pura è una malattia rara dei mitocondri che colpisce esclusivamente i muscoli scheletrici, senza evidenze cliniche di interessamento di altri organi; esordisce con debolezza progressiva degli arti, atrofia dei muscoli prossimali degli arti e anomalie dei muscoli oculari (limitazione della motilità oculare, ptosi). I pazienti possono presentare acidosi lattica, mialgia diffusa e affaticamento generalizzato (soprattutto durante e dopo l'attività fisica), disfagia e diminuzione dei riflessi tendinei profondi."},"nl":{"name":"Zuivere mitochondriale myopathie","definition":"Zuivere mitochondriële myopathie is een zeldzame mitochondriële aandoening die gekarakteriseerd wordt door exclusieve betrokkenheid van de skeletspieren, zonder klinisch bewijs voor betrokkenheid van een ander orgaan, en die zich manifesteert met progressieve zwakte van de ledematen, atrofie van de spieren van de proximale ledematen, en anomalieën van de oogspieren (e.g. beperkte motiliteit van de ogen, ptose). Patiënten kunnen lactaatacidose, diffuse myalgie en algehele vermoeidheid (vooral tijdens/na fysieke activiteiten), dysfagie en verminderde diepe peesreflexen vertonen."},"pt":{"name":"Miopatia mitocondrial pura"},"pl":{"name":"Czysta miopatia mitochondrialna"},"cs":{"name":"Čistá mitochondriální myopatie"},"uk":{"name":"Чиста мітохондріальна міопатія","definition":"Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes."},"zh":{"name":"单纯线粒体肌病","definition":"单纯线粒体肌病是一种罕见的线粒体疾病，其特征是仅累及骨骼肌，无其他器官受累的临床证据，表现为进行性肢体无力、四肢近端肌肉萎缩和眼肌异常(如眼球运动受限、上睑下垂)。患者可能出现乳酸酸中毒、弥漫性肌痛和全身疲劳感(特别是在体力活动期间/之后)、吞咽困难和深部肌腱反射减弱。"},"tr":{"name":"Saf mitokondriyal miyopati"}},"xrefs":[{"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":"141365898"},{"source":"MONDO","code":"0016807","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4517289","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254788,"name":"Mitochondrial DNA-related mitochondrial myopathy","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Adolescent","Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-24","source":"17825557[PMID]_9003864[PMID]_23911206[PMID]_1589382[PMID]_17951082[PMID]_1571086[PMID]","terms":[{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009020","label":"Exercise-induced muscle fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030199","label":"Fatigable weakness of neck muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002600","label":"Hyporeflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","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:0003547","label":"Shoulder girdle muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030192","label":"Fatigable weakness of bulbar muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030195","label":"Fatigable weakness of swallowing muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000590","label":"Progressive external ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003652","label":"Recurrent myoglobinuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null}]}}