{"orpha":64751,"name":"Hereditary motor and sensory neuropathy type 5","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Charcot-Marie-Tooth disease-pyramidal features syndrome","HMSN 5","HMSN V","Hereditary motor and sensory neuropathy type V"],"definition":"Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64751/","orphanet_url":"https://www.orpha.net/en/disease/detail/64751","names":{"fr":{"name":"Neuropathie sensitivo-motrice héréditaire type 5","synonyms":["Neuropathie sensitivo-motrice héréditaire type V","Syndrome de maladie de Charcot-Marie-Tooth-signes pyramidaux"],"definition":"Neuropathie sensitivo-motrice axonale héréditaire rare caractérisée par une faiblesse et une atrophie musculaires distales lentement progressives, avec ou sans perte sensorielle, entraînant une difficulté à marcher, un pied tombant et un pied creux, qui peuvent être accompagnés de signes d'atteinte pyramidale (signe de Babinski positif, légère augmentation du tonus musculaire, réflexes tendineux vifs), de crampes musculaires, de douleurs et de spasticité."},"de":{"name":"Neuropathie, hereditäre motorisch-sensorische, Typ 5","synonyms":["Charcot-Marie-Tooth-Krankheit - pyramidale Störungen","HMSN 5","HMSN V","Neuropathie, hereditäre motorisch-sensorische, Typ V"]},"es":{"name":"Neuropatía sensitivo-motora hereditaria tipo 5","synonyms":["HMSN 5","HMSN V","Neuropatía hereditaria sensitivo-motora tipo V","Síndrome de enfermedad de Charcot-Marie-Tooth-signos piramidales"],"definition":"Es una neuropatía sensitivo-motora hereditaria axonal poco frecuente caracterizada por atrofia y debilidad muscular distal lentamente progresiva con o sin pérdida sensitiva que da lugar a dificultad para caminar, pie caído y pie cavo. También puede tener asociados signos piramidales (respuesta plantar extensora, aumento leve del tono muscular, reflejos tendinosos vivos), calambres musculares, dolor y espasticidad."},"it":{"name":"Neuropatia motoria e sensoriale ereditaria tipo 5","synonyms":["HMSN 5","Malattia di Charcot-Marie-Tooth - segni piramidali"],"definition":"La neuropatia motoria e sensoriale ereditaria tipo 5 è una neuropatia sensitivo-motoria assonale ereditaria rara, caratterizzata da debolezza ed atrofia dei muscoli distali a progressione lenta, con o senza perdita sensoriale, con conseguenti difficoltà nella deambulazione, piede cadente e piede cavo. Può associarsi a segni piramidali (risposte plantari in estensione, lieve aumento del tono, velocizzazione dei riflessi tendinei), crampi muscolari, dolore e spasticità."},"nl":{"name":"Hereditaire motorische en sensorische neuropathie type 5","synonyms":["Erfelijke motorische en sensorische neuropathie type V","HMSN 5","HMSN V","Ziekte van Charcot-Marie-Tooth - piramidale kenmerken-syndroom"],"definition":"Erfelijke motorische en sensorische neuropathie type 5 is een zeldzame, axonale, erfelijke motorische en sensorische neuropathie, en wordt gekarakteriseerd door progressieve zwakheid en atrofie van distale spieren met of zonder zintuiglijk verlies, die leiden tot moeilijkheden met stappen, klapvoet en holvoet, en die geassocieerd kunnen zijn met piramidale tekenen (pathologische voetzoolreflexen, milde toename van tonus, snelle peesreflexen), en spierkrampen, -pijn en -spasticiteit."},"pt":{"name":"Neuropatia sensitiva e motora hereditária tipo 5","synonyms":["Doença de Charcot-Marie-Tooth-sinais piramidais","HMSN 5"]},"pl":{"name":"Dziedziczna neuropatia ruchowo-czuciowa typu 5","synonyms":["Choroba Charcot, Marie i Tooth - objawy piramidowe","HMSN 5"],"definition":"*Dziedziczna neuropatia ruchowo-czuciowa typu 5 to rzadka dziedziczna aksonalna neuropatia ruchowo-czuciowa, która charakteryzuje się powoli postępującym osłabieniem i zanikiem mięśni dystalnych, z/bez utraty czucia, co powoduje trudności w chodzeniu, opadanie stóp i prowadzi do powstania stopy wydrążonej; mogą towarzyszyć objawy piramidowe (objaw Babińskiego, łagodny wzrost napięcia, żywe odruchy ścięgniste), skurcze mięśni, ból i spastyczność.inf brsup inf brsup"},"cs":{"name":"Hereditární motorická a sensorická neuropatie, typ 5","synonyms":["HMSN 5","Syndrom zahrnující Charcotovu-Marieovu-Toothovu nemoc a pyramidové příznaky","Syndrom zahrnující Charcot-Marie-Toothovu nemoc a pyramidové příznaky"]},"uk":{"name":"Спадкова моторна та сенсорна нейропатія, тип 5","synonyms":["Хвороба Шарко-Марі-Тута - синдром пірамідальних ознак","Спадкова моторна та сенсорна нейропатія типу V","HMSN 5","HMSN V"],"definition":"Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity."},"zh":{"name":"遗传性运动感觉性神经病5型","synonyms":["Charcot-Marie-Tooth病-金字塔征综合征"]},"tr":{"name":"Kalıtsal motor ve duyusal nöropati tip 5","synonyms":["HMSN 5","HMSN V","Kalıtsal motor ve duyusal nöropati tip V","Charcot-Marie-Tooth hastalığı-piramidal özellikler sendromu"]}},"xrefs":[{"source":"OMIM","code":"600361","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1896398871"},{"source":"MONDO","code":"0010877","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4721916","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9208","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]}],"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 dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"6707656[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"6707656[PMID]_ORPHANET"}],"phenotypes":null}