{"orpha":90120,"name":"Hereditary motor and sensory neuropathy type 6","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT6","Charcot-Marie-Tooth disease type 6","HMSN 6","HMSN VI","Hereditary motor and sensory neuropathy type VI","Peripheral neuropathy and optic atrophy"],"definition":"A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90120/","orphanet_url":"https://www.orpha.net/en/disease/detail/90120","names":{"fr":{"name":"Neuropathie sensitivo-motrice héréditaire type 6","synonyms":["CMT6","Maladie de Charcot-Marie-Tooth type 6","Neuropathie périphérique et atrophie optique","Neuropathie sensitivo-motrice héréditaire type VI"],"definition":"Neuropathie sensitivo-motrice héréditaire axonale rare caractérisée par une neuropathie sensitivo-motrice axonale périphérique progressive (de sévérité variable), affectant principalement la partie distale des membres inférieurs, associée à une atrophie optique progressive, de sévérité variable, qui entraîne fréquemment une cécité. Les patients présentent généralement une faiblesse et une atrophie musculaires distales des membres, une hypo/aréflexie, des déformations des pieds, une mauvaise acuité visuelle (souvent en raison d'un scotome central), un nystagmus et une baisse de vision périphérique et nocturne. Parmi les autres manifestations rapportées figurent une surdité neurosensorielle, d'importantes contractures articulaires, une anosmie, une scoliose/une hyperlordose lombaire, des troubles cognitifs et une parésie des cordes vocales."},"de":{"name":"Neuropathie, hereditäre motorisch-sensorische, Typ 6","synonyms":["CMT6","Charcot-Marie-Tooth-Krankheit Typ 6","HMSN 6","HMSN VI","Neuropathie, hereditäre motorisch-sensorische, Typ VI","Periphere Neuropathie und Optikusatrophie"],"definition":"Eine axonale Form der hereditären motorischen und sensorischen Neuropathie, die gekennzeichnet ist durch eine fortschreitende periphere axonale sensomotorische Neuropathie (von unterschiedlichem Schweregrad), die vorwiegend die distalen unteren Gliedmaßen betrifft und mit einer fortschreitenden, unterschiedlich schweren Optikusatrophie einhergeht, die häufig zu einem Sehverlust führt. Die Patienten zeigen typischerweise eine Muskelschwäche und -atrophie der distalen Gliedmaßen, Hypo-/Areflexie, Fußdeformitäten, schlechte Sehschärfe (oft mit zentralem Skotom), Nystagmus und vermindertes peripheres und nächtliches Sehen. Weitere Manifestationen umfassen sensorineurale Schwerhörigkeit, größere Gelenkkontrakturen, Anosmie, Skoliose/Lumbalhyperlordose, kognitive Beeinträchtigung und Stimmbandparese."},"es":{"name":"Neuropatía sensitivo-motora hereditaria tipo 6","definition":"Es una enfermedad neuropática axonal sensitivo-motora hereditaria y poco frecuente caracterizada por neuropatía axonal sensitivo-motora periférica y progresiva (de gravedad variable), que afecta predominantemente a la porción distal de las extremidades inferiores, asociada a atrofia óptica progresiva de gravedad variable, que con frecuencia conduce a pérdida visual. Los pacientes suelen presentar debilidad y atrofia muscular distal en las extremidades, hipo / arreflexia, deformidad del pie, pobre agudeza visual (a menudo con escotoma central), nistagmo y reducción de la visión periférica y nocturna. Otros hallazgos adicionales descritos incluyen pérdida auditiva neurosensorial, contracturas de las grandes articulaciones, anosmia, escoliosis / hiperlordosis lumbar, discapacidad cognitiva y paresia de las cuerdas vocales."},"it":{"name":"Neuropatia motoria e sensoriale ereditaria tipo 6","synonyms":["CMT6","Malattia di Charcot-Marie-Tooth, tipo 6","Neuropatia periferica e atrofia ottica"],"definition":"È una neuropatia motoria e sensoriale assonale ereditaria rara, caratterizzata da neuropatia sensitivo-motoria assonale periferica progressiva, di gravità variabile, che interessa per lo più la porzione distale degli arti inferiori, associata ad atrofia ottica progressiva di gravità variabile, che spesso esita nella cecità. Di solito i pazienti presentano debolezza ed atrofia dei muscoli distali degli arti, ipo/areflessia, deformità dei piedi, scarsa acuità visiva (spesso associata a scotoma centrale), nistagmo e riduzione della visione periferica e notturna. Altri segni clinici sono la sordità neurosensoriale, le contratture delle grandi articolazioni, l'anosmia, la scoliosi/iperlordosi lombare, il deficit cognitivo e la paresi delle corde vocali."},"nl":{"name":"Erfelijke motorische en sensorische neuropathie type 6","synonyms":["CMT6","Erfelijke motorische en sensorische neuropathie type VI","HMSN 6","HMSN VI","Perifere neuropathie en opticusatrofie","Ziekte van Charcot-Marie-Tooth type 6"],"definition":"Een zeldzame, axonale, erfelijke, motorische en sensorische neuropathie gekarakteriseerd door progressieve, perifere, axonale sensomotorische neuropathie (met variabele gradaties van ernst) die voornamelijk de distale onderste ledematen treft, geassocieerd met progressieve, variabel ernstige, opticusatrofie die vaak leidt tot verlies van gezichtsvermogen. Patiënten vertonen doorgaans spierzwakte en -atrofie in distale ledematen, hypo-/areflexie, voetmisvormingen, verminderde visus (vaak met een centraal scotoom), nystagmus, en verminderd perifeer zicht en nachtzicht. Bijkomende manifestaties die reeds werden gerapporteerd, zijn onder meer sensorineuraal gehoorverlies, grote gewrichtscontracturen, anosmie, scoliose/lumbale hyperlordose, cognitieve beperking en stembandverlamming."},"pt":{"name":"Neuropatia sensitiva e motora hereditária tipo 6"},"pl":{"name":"Dziedziczna neuropatia ruchowa i czuciowa typu 6","synonyms":["Choroba Charcota, Mariego i Tootha typu 6","CMT6","Neuropatia obwodowa i zanik nerwu wzrokowego"]},"cs":{"name":"Hereditární motorická a senzorická neuropatie, typ 6","synonyms":["CMT6","Charcotova-Marieova-Toothova nemoc, typ 6","Periferní neuropatie a atrofie optiku","Charcot-Marie-Toothova nemoc, typ 6"]},"uk":{"name":"Спадкова моторна та сенсорна нейропатія, тип 6","synonyms":["Хвороба Шарко-Марі-Тута тип 6","ШМТ6","Спадкова моторна та сенсорна нейропатія VI типу","HMSN 6","HMSN VI","Периферична нейропатія та атрофія зорового нерва"],"definition":"A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis."},"zh":{"name":"遗传性运动感觉神经病6型","synonyms":["遗传性运动感觉神经病6型"]},"tr":{"name":"Kalıtsal motor ve duyusal nöropati tip 6","synonyms":["CMT6","HMSN 6","HMSN VI","Charcot-Marie-Tooth hastalığı tip 6","Periferik nöropati ve optik atrofi","Kalıtsal motor ve duyusal nöropati tip VI"]}},"xrefs":[{"source":"OMIM","code":"601152","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616505","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"467894833"},{"source":"MONDO","code":"0019551","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562851","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0393807","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140456,"name":"Autosomal dominant hereditary axonal motor and sensory neuropathy","classifications":[156,181]},{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC25A46","name":"solute carrier family 25 member 46","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26168012[PMID]","hgnc":"25198","ensembl":"ENSG00000164209","omim":"610826","loci":["5q22.1"]},{"symbol":"MFN2","name":"mitofusin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16437557[PMID]","hgnc":"16877","ensembl":"ENSG00000116688","omim":"608507","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":73.0,"area":"Worldwide","status":"Validated","source":"26168012[PMID]_27430653[PMID]_28558379[PMID]_30178502[PMID]_33816684[PMID]_14516807[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"26168012[PMID]_27430653[PMID]_28558379[PMID]_30178502[PMID]_33816684[PMID]_14516807[PMID]_ORPHANET"}],"phenotypes":null}