{"orpha":502423,"name":"Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome"],"definition":"A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-502423/","orphanet_url":"https://www.orpha.net/en/disease/detail/502423","names":{"fr":{"name":"Syndrome de myopathie mitochondriale-ataxie cérébelleuse-rétinopathie pigmentaire","synonyms":["Syndrome de myopathie mitochondriale-atrophie cérébelleuse-rétinopathie pigmentaire"],"definition":"Myopathie mitochondriale rare caractérisée par un retard de développement moteur (pendant la petite enfance), un trouble de la croissance et une faiblesse musculaire (principalement proximale) due à une dystrophie musculaire. La biopsie musculaire met en évidence des anomalies myopathiques et une diminution du contenu de l'ADNmt. L'électromyographie (EMG) révèle un processus myopathique et le taux sérique de créatine kinase est élevé. La maladie est également caractérisée par une atrophie cérébelleuse non progressive à début précoce (notamment du vermis cérébelleux et des hémisphères), un dysfonctionnement du tractus corticospinal et une atrophie cérébrale partielle ou globale visible à l'IRM cérébrale. Par ailleurs, certains patients présentent une déficience cognitive, des anomalies du squelette, des tremblements et une rétinopathie."},"de":{"name":"Mitochondriale Myopathie-zerebelläre Ataxie-Pigmentretinopathie-Syndrom","synonyms":["Mitochondriale Myopathie-zerebelläre Atrophie-Pigmentretinopathie-Syndrom"],"definition":"Eine seltene mitochondriale Myopathie, die durch eine motorische Entwicklungsverzögerung (im Säuglingsalter), Wachstumsstörungen und meist proximale Muskelschwäche gekennzeichnet ist und durch eine Muskeldystrophie verursacht wird. Die Muskelbiopsie zeigt myopathische Anomalien und einen verminderten mtDNA-Gehalt. Die Elektromyographie (EMG) zeigt einen myopathischen Prozess und die Kreatinkinase im Serum ist erhöht. Die Krankheit ist auch durch eine früh einsetzende, nicht-progrediente Atrophie des Kleinhirns (insbesondere des Kleinhirnwurms und der Hemisphären), eine Funktionsstörung der kortikospinalen Bahnen und eine globale oder partielle zerebrale Atrophie im MRT des Gehirns gekennzeichnet. Darüber hinaus wiesen einige Patienten kognitive Defizite, Skelettanomalien, Tremor und Retinopathie auf."},"es":{"name":"Síndrome de miopatía mitocondrial-ataxia cerebelosa-retinopatía pigmentaria","synonyms":["Síndrome de miopatía mitocondrial-atrofia cerebelosa-retinopatía pigmentaria"],"definition":"Es una miopatía mitocondrial poco frecuente caracterizada por un retraso del desarrollo motor (en la infancia), afectación del crecimiento y debilidad muscular principalmente proximal como consecuencia de la distrofia muscular. La biopsia muscular muestra anomalías miopáticas y disminución del contenido de ADNmt. La electromiografía (EMG) evidencia un proceso miopático, con incremento de la creatina cinasa sérica. La enfermedad también se caracteriza por atrofia cerebelosa no progresiva de inicio precoz (particularmente vermis y hemisferios cerebelosos), disfunción del tracto corticoespinal y atrofia cerebral global o parcial en la neuroimagen. Además, algunos pacientes presentan deficit cognitivo, anomalías esqueléticas, temblores y retinopatía."},"it":{"name":"Sindrome miopatia mitocondriale-atassia cerebellare-retinite pigmentosa","definition":"Si tratta di una miopatia mitocondriale rara, caratterizzata da ritardo dello sviluppo motorio ad esordio neonatale, ritardo della crescita e debolezza muscolare, per lo più prossimale, secondaria alla distrofia muscolare. La biopsia muscolare evidenzia anomalie miopatiche e una riduzione del contenuto di mtDNA. L'elettromiografia (EMG) evidenzia un processo miopatico, e i livelli della creatin-chinasi nel siero sono elevati. La malattia è caratterizzata anche da atrofia cerebellare non progressiva ad esordio precoce (che interessa in particolare il verme e gli emisferi cerebellari), disfunzione del tratto corticospinale e atrofia cerebrale globale o parziale (evidente alla RMN). I pazienti possono presentare anche deficit cognitivo, anomalie scheletriche, tremori e retinopatia."},"nl":{"name":"Mitochondriale myopathie - cerebellaire ataxie - pigmentretinopathie-syndroom","synonyms":["Mitochondriale myopathie - cerebellaire atrofie - pigmentretinopathie-syndroom"],"definition":"Een zeldzame mitochondriale myopathie, gekenmerkt door motorische ontwikkelingsachterstand (in de zuigelingentijd), groeistoornis, en zwakte van overwegend proximale spier veroorzaakt door een musculaire dystrofie. Biopsie van spier toont myopathische afwijkingen en verminderde hoeveelheid mtDNA. Elektromyografie (EMG) toont een myopathisch proces, en creatinekinase in serum is verhoogd. De ziekte wordt ook gekenmerkt door vroeg optredende niet-progressieve cerebellaire atrofie (vooral van cerebellaire vermis en hemisferen), disfunctie van tractus corticospinalis, en algehele of partiële cerebrale atrofie op MRI van hersenen. Bijkomend vertoonden sommige patiënten cognitieve deficiëntie, skeletafwijkingen, tremor, en retinopathie."},"pt":{"name":"Síndrome de miopatia mitocondrial-ataxia cerebelosa-retinopatia pigmentosa","synonyms":["Síndrome de miopatia mitocondrial-atrofia cerebelosa-retinopatia pigmentosa"],"definition":"Miopatia mitocondrial rara caracterizada por atraso no desenvolvimento motor (na infância), compromisso do crescimento e principalmente fraqueza muscular proximal causada por uma distrofia muscular. A biópsia muscular apresenta anomalias miopáticas e diminuição do conteúdo de mtDNA. A eletromiografia (EMG) evidencia um processo miopático e aumento da creatina quinase sérica. A doença também é caracterizada por atrofia cerebelosa não progressiva de início precoce (particularmente vermis e hemisférios cerebelosos), disfunção do trato corticospinal e atrofia cerebral global ou parcial na ressonância magnética cerebral. Adicionalmente, alguns doentes apresentavam transtornos cognitivos, anomalias esqueléticas, tremores e retinopatia."},"pl":{"name":"Zespół miopatii mitochondrialnej, ataksji móżdżkowej i retinopatii barwnikowej","synonyms":["Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome"]},"cs":{"name":"Mitochondriální syndrom zahrnující myopatii, mozečkovou ataxii a pigmentovou retinopatii","synonyms":["Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome","Syndrom zahrnující mitochondriální myopatii, cerebelární atrofii a pigmentovou retinopatii"]},"uk":{"name":"Синдром мітохондріальної міопатії-мозочкової атаксії-пігментної ретинопатії","synonyms":["Синдром мітохондріальної міопатії-мозочкової атрофії-пігментної ретинопатії"],"definition":"A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy."},"zh":{"name":"线粒体肌病-小脑共济失调-色素性视网膜病变综合征","synonyms":["线粒体肌病-小脑萎缩-色素性视网膜病变综合征"],"definition":"一种罕见的遗传性神经系统疾病，其特征是运动发育迟缓（婴儿期）、与肌肉活检和肌电图的肌病性病状相关的生长障碍和肌无力，以及震颤、辨距不良、与脑MRI（特别是小脑蚓部和半球）的全面或部分大脑萎缩相关的轮替运动不能和行走障碍，伴有或不伴有轻度智力障碍。部分患者还出现色素性视网膜病。"},"tr":{"name":"Mitokondriyal miyopati-serebellar ataksi-pigmenter retinopati sendromu","synonyms":["Mitokondriyal miyopati-serebellar atrofi-pigmenter retinopati sendromu"]}},"xrefs":[{"source":"OMIM","code":"617675","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":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0044714","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4540096","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":206966,"name":"Mitochondrial myopathy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":254837,"name":"Unspecified mitochondrial disorder","classifications":[150,156]}],"children":[],"genes":[{"symbol":"MSTO1","name":"misato mitochondrial distribution and morphology regulator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28544275[PMID]","hgnc":"29678","ensembl":"ENSG00000125459","omim":"617619","loci":["1q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"28544275[PMID]_28554942[PMID]_29339779[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28544275[PMID]_28554942[PMID]_29339779[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-03","source":"28544275[PMID]_28554942[PMID]","terms":[{"hpo":"HP:0100887","label":"Abnormality of globe size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003391","label":"Gowers sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012240","label":"Increased intramyocellular lipid droplets","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009051","label":"Increased muscle glycogen content","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003737","label":"Mitochondrial myopathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Very rare (<4-1%)","criteria":"Diagnostic criterion"}]}}