{"orpha":496686,"name":"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-496686/","orphanet_url":"https://www.orpha.net/en/disease/detail/496686","names":{"fr":{"name":"Syndrome de cyphose-atrophie de la langue-myopathie myofibrillaire","definition":"Maladie génétique rare du muscle squelettique caractérisée par l'apparition, de la naissance à l'enfance, d'une faiblesse voire d'une atrophie musculaire lentement progressive affectant principalement les membres inférieurs, des contractures articulaires, une cyphose ou lordose de la colonne vertébrale, une atrophie latérale de la langue et une pes equinus. Une progression vers l'atteinte des membres supérieurs, une faiblesse faciale, des troubles du langage, une déficience intellectuelle et des troubles du comportement ont par ailleurs été rapportés. La biopsie musculaire met en évidence des changements myopathiques et une variabilité de la taille des fibres dont le noyau est situé au centre, une atrophie des fibres, avec desstructures en bâtonnets et des anomalies sous forme de « central cores »."},"de":{"name":"Kyphose-laterale Zungenatrophie-myofibrilläre Myopathie-Syndrom","definition":"Eine seltene genetisch bedingte Skelettmuskelerkrankung, die sich durch eine langsam fortschreitende Muskelschwäche und -atrophie auszeichnet, die hauptsächlich die unteren Gliedmaßen, Gelenkkontrakturen, Kyphose oder Lordose der Wirbelsäule, seitliche Zungenatrophie und Pes equinus betrifft. Darüber hinaus wurde über eine Beteiligung der oberen Gliedmaßen, Schwäche der Fazialmuskeln, Sprachstörungen, Intelligenzminderung und Verhaltensauffälligkeiten berichtet. Die Muskelbiopsie zeigt myopathische Veränderungen mit erhöhter Fasergrößenvariation, internalisierten Kernen, Faseratrophie sowie Stäbchenstrukturen und Kern-Targetoid-Defekten."},"es":{"name":"Síndrome de cifosis-atrofia lateral de la lengua-miopatía miofibrilar","definition":"Es una enfermedad genética poco frecuente del músculo esquelético caracterizada por el inicio neonatal o en la infancia de debilidad y atrofia muscular lentamente progresiva que afecta principalmente a las extremidades inferiores, contracturas articulares, cifosis o lordosis de la columna, atrofia lateral de la lengua y pie equino. Además, se ha descrito la progresión a las extremidades superiores, debilidad facial, alteración del lenguaje, discapacidad intelectual y trastornos de la conducta. La biopsia muscular muestra cambios miopáticos con aumento de la variación del tamaño de las fibras, núcleos internalizados y atrofia de las fibras, así como defectos de la estructura de los bastones y anomalías core-targetoides."},"it":{"name":"Sindrome cifosi-atrofia laterale della lingua-miopatia miofibrillare","definition":"Si tratta di una malattia muscoloscheletrica genetica rara, caratterizzata da debolezza muscolare ad esordio neonatale o infantile, a progressione lenta, che interessa prevalentemente gli arti inferiori, con contratture articolari, cifosi o lordosi della colonna vertebrale, atrofia laterale della lingua e piede equino. La malattia può progredire e interessare anche gli arti superiori. Altri segni clinici sono la debolezza facciale, il deficit del linguaggio, la disabilità intellettiva e le anomalie comportamentali. La biopsia dei muscoli evidenzia alterazioni miopatiche con un'elevata variabilità delle dimensioni delle fibre, internalizzazione dei nuclei, atrofia delle fibre, strutture a forma di bastoncelli e difetti centrali a bersaglio."},"nl":{"name":"Kyfose - laterale tongatrofie - myofibrillaire myopathie-syndroom","definition":"Een zeldzame, genetische aandoening van skeletspier, gekarakteriseerd door neonatale aanvang tot aanvang in de kindertijd van traag progressieve spierzwakte en -atrofie van hoofdzakelijk onderste ledematen, gewrichtscontracturen, kyfose of lordose van wervelkolom, atrofie van laterale tong, en pes equinus (spitsvoet). Bijkomend werden progressie naar betrokkenheid van bovenste ledematen, zwakte van aangezichtsspieren, taalstoornis, intellectuele achterstand, en gedragsafwijkingen gerapporteerd. Spierbiopsie toont myopathische veranderingen, met toename van variatie in omvang van vezels, geïnternaliseerde nuclei, atrofie van vezels, alsook staafvormige structuren en targetoïde (schietschijfachtige) 'core' defecten."},"pt":{"name":"Síndrome de cifose-atrofia lateral da língua-miopatia miofibrilar"},"pl":{"name":"Zespół kifoskoliozy, bocznego zaniku języka i miopatii miofibrylarnej"},"cs":{"name":"Syndrom kyfózy, laterální atrofie jazyka a myofibrilární myopatie"},"uk":{"name":"Синдром кіфозу-бічної атрофії язика-міофібрилярної міопатії","definition":"A rare genetic skeletal muscle disease characterized by neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. Progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities have been reported in addition. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects."},"zh":{"name":"脊柱后凸-舌单侧萎缩-肌原纤维肌病综合征","definition":"一种罕见的遗传性骨骼肌疾病，其特征是新生儿至儿童期开始出现缓慢进行性肌无力和萎缩，主要影响下肢、关节挛缩、脊柱后凸或前凸、舌侧萎缩和马蹄样足。此外，也有报道发展到上肢受累、面部无力、语言障碍、智力障碍和行为异常。肌肉活检显示肌病理变化，纤维大小变异增加，核内化，纤维萎缩，以及杆状结构和中央核靶样缺损。"},"tr":{"name":"Kifoz-lateral dil atrofisi-miyofibriler miyopati sendromu"}},"xrefs":[{"source":"OMIM","code":"617114","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044647","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567453","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":593,"name":"Myofibrillar myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KY","name":"kyphoscoliosis peptidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27484770[PMID]_27485408[PMID]","hgnc":"26576","ensembl":"ENSG00000174611","omim":"605739","loci":["3q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27484770[PMID]_27485408[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"27484770[PMID]_27485408[PMID]"}],"phenotypes":null}