{"orpha":90118,"name":"Severe early-onset axonal neuropathy due to MFN2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AR-CMT2, Ouvrier type","Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type","SEOAN due to MFN2 deficiency"],"definition":"Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90118/","orphanet_url":"https://www.orpha.net/en/disease/detail/90118","names":{"fr":{"name":"Neuropathie axonale sévère précoce par déficit en MFN2","synonyms":["AR-CMT2 type Ouvrier","Maladie de Charcot-Marie-Tooth autosomique récessive type Ouvrier","SEOAN par déficit en MFN2"],"definition":"Une neuropathie motrice et sensitive axonale, héréditaire et rare. Elle se caractérise par la survenue précoce (avant l'âge de 10 ans) d'une faiblesse progressive des muscles distaux et une fonte musculaire des muscles inférieurs, et plus tardivement, par une atteinte moins importante des membres supérieurs conduisant à des pieds et des poignets tombants et une aréflexie. Des malformations squelettiques (cyphoscoliose, pieds plats creux, contractures articulaires) sont aussi associées, ainsi qu'une légère atteinte sensorielle (la diminution de la sensation des vibrations est plus importante que la douleur), une atrophie optique et une perte de l'audition. Habituellement, les patients dépendent d'un fauteuil roulant à l'adolescence. Une atteinte respiratoire avec paralysie diaphragmatique peut se développer."},"de":{"name":"Schwere früh-beginnende axonale Neuropathie durch MFN2-Mangel","synonyms":["AR-CMT2, Typ Ouvrier","Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ Ouvrier","SEOAN durch MFN2-Mangel"],"definition":"Eine seltene axonale hereditäre motorische und sensorische Neuropathie, die durch früh einsetzende (<10 Jahre) progressive distale Muskelschwäche und Muskelschwund der unteren Gliedmaßen und später (in geringerem Ausmaß) auch der oberen Gliedmaßen gekennzeichnet ist. Die Krankheit manifestiert sich durch Fallhand und Hängefuß, Areflexie, Skelettdeformitäten (Kyphoskoliose, Pes cavus, Gelenkkontrakturen), leichten sensorischen Beeinträchtigungen, bei denen der Vibrationssinn stärker eingeschränkt ist als der Schmerzsinn, Optikusatrophie und Hörverlust. In der Regel werden die Patienten bis zum Jugendalter rollstuhlabhängig und möglicherweise entwickeln sich Atemprobleme mit Lähmungen des Zwerchfells."},"es":{"name":"Neuropatía axonal grave de inicio precoz por deficiencia de MFN2","synonyms":["CMT2-AR tipo Ouvrier","Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo Ouvrier","SEOAN por deficiencia de MFN2"],"definition":"La neuropatía axonal grave de inicio temprano por deficiencia de MFN2, es una neuropatía sensitivo-motora hereditaria axonal poco frecuente caracterizada por un inicio temprano (<10 años) de debilidad muscular distal progresiva y atrofia de las extremidades inferiores y posteriormente, en menor medida, de las extremidades superiores que resultan en caída de pie y muñeca, arreflexia, malformaciones esqueléticas (cifoescoliosis, pes cavus con aplanamiento, contracturas articulares), leve alteración sensitiva con disminución de la sensibilidad vibratoria en mayor medida que el dolor, la atrofia óptica y la pérdida auditiva. La dependencia de la silla de ruedas en la adolescencia es habitual y puede desarrollarse insuficiencia respiratoria con parálisis diafragmática."},"it":{"name":"Neuropatia assonale grave a esordio precoce da deficit di MFN2","synonyms":["AR-CMT2, tipo Ouvrier","Malattia di Charcot-Marie-Tooth autosomica recessiva , tipo Ouvrier","SEOAN da deficit di MFN2"],"definition":"La neuropatia assonale grave ad esordio precoce da deficit di MFN2 è una neuropatia motoria e sensoriale assonale ereditaria rara, che esordisce precocemente (prima dei 10 anni) con debolezza e atrofia progressive dei muscoli distali degli arti inferiori e, successivamente, degli arti superiori (in misura minore), responsabile di piedi e polsi cadenti, areflessia, deformità scheletriche (cifoscoliosi, piede cavo con tendenza all'appiattimento, contratture articolari), lieve deficit cognitivo. ridotta percezione delle vibrazioni e, in minor misura, dolore, atrofia ottica e sordità. Di solito i pazienti sono costretti sulla sedia a rotelle prima dell'adolescenza e possono sviluppare deficit respiratori e paralisi diaframmatica."},"nl":{"name":"Ernstige axonale neuropathie met vroege aanvang door MFN2-deficiëntie","synonyms":["AR-CMT2, Ouvrier-type","Autosomaal recessieve ziekte van Charcot-Marie-Tooth, Ouvrier-type","SEOAN door MFN2-deficiëntie"],"definition":"Ernstige axonale neuropathie met vroege aanvang als gevolg van MFN2-deficiëntie is een zeldzame axonale erfelijke motorische en sensorische neuropathie, gekarakteriseerd door vroege aanvang (<10 jaar) van progressieve distale spierzwakte en -atrofie in de onderste ledematen en later, in mindere mate, in de bovenste ledematen, met als gevolg klapvoet en valhand, areflexie, skeletmisvormingen (kyfoscoliose, pes cavus met afvlakking, gewrichtscontracturen), milde zintuiglijke stoornis waarbij de vibratiezin sterker is gereduceerd dan de pijnzin, opticusatrofie en gehoorverlies. Doorgaans worden patiënten afhankelijk van een rolstoel tegen de adolescentie en mogelijk ontwikkelen zich ademhalingsproblemen met verlamming van het middenrif."},"pt":{"name":"Neuropatia axonal grave de início precoce por deficiência de MFN2","synonyms":["Doença de Charcot-Marie-Tooth autossómica recessiva, tipo Ouvrier"]},"pl":{"name":"Ciężka wczesna neuropatia aksonalna spowodowana niedoborem MFN2","synonyms":["AR-CMT2, typ Ouvriera","Autosomalna recesywna choroba Charcota, Mariego i Tootha, typ Ouvriera","SEOAN z powodu niedoboru MFN2"]},"cs":{"name":"Těžká axonální neuropatie s časným nástupem na podkladě deficitu MFN2","synonyms":["AR-CMT2, Ouvrierův typ","Autozomálně recesivní Charcotova-Marieova-Toothova nemoc, Ouvrierův typ","SEOAN na podkladě deficitu MFN2","Autozomálně recesivní Charcot-Marie-Toothova nemoc, Ouvrierův typ"]},"uk":{"name":"Тяжка рання аксональна нейропатія, спричинена дефіцитом MFN2","synonyms":["AR-CMT2, тип Ouvrier","Аутосомно-рецесивна хвороба Шарко-Марі-Тута, тип Ouvrier","SEOAN через відсутність режиму найбільшого сприяння (ННС2)"],"definition":"Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop."},"zh":{"name":"MFN2缺乏所致严重早发轴突性神经病","synonyms":["常染色体隐性遗传性Charcot-Marie-Tooth病，Ouvrier型"]},"tr":{"name":"MFN2 eksikliğine bağlı ağır erken başlangıçlı aksonal nöropati","synonyms":["AR-CMT2, Ouvrier tipi","MFN2 eksikliğine bağlı SEOAN","Otozomal Çekinik Charcot-Marie-Tooth hastalığı, Ouvrier tipi"]}},"xrefs":[{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019549","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707897","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MFN2","name":"mitofusin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"16877","ensembl":"ENSG00000116688","omim":"608507","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[],"phenotypes":null}