{"orpha":280598,"name":"Hereditary sensorimotor neuropathy with hyperelastic skin","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280598/","orphanet_url":"https://www.orpha.net/en/disease/detail/280598","names":{"fr":{"name":"Neuropathie sensitivo-motrice héréditaire avec hyperélasticité de la peau","definition":"Neuropathie sensitivo-motrice héréditaire démyélinisante rare d'origine génétique, caractérisée par une faiblesse et une atrophie des muscles distaux des membres supérieurs et inférieurs, à progression lente et d'intensité légère à modérée, ainsi que par des troubles sensitifs distaux variables associés à une hyperélasticité de la peau et à une dégénérescence maculaire liée à l'âge. Une hypermobilité des articulations distales, un palais ogival et des anomalies squelettiques mineures (pectus excavatum, dolichocéphalie) peuvent aussi être associés."},"de":{"name":"Sensorimotorische Neuropathie mit hyperelastischer Haut, hereditäre Form"},"es":{"name":"Neuropatía sensitivo-motora hereditaria con piel hiperelástica","definition":"La neuropatía sensitivo-motora hereditaria con piel hiperelástica, es un trastorno genético, poco frecuente de neuropatía sensitivo-motora hereditaria desmielinizante caracterizada por debilidad muscular distal y atrofia lentamente progresiva, de leve a moderada, de los miembros superiores e inferiores y un deterioro sensitivo distal variable, asociado con un grado variable de hiperextensibilidad de la piel y degeneración macular relacionada con la edad. También pueden asociarse hipermovilidad de las articulaciones distales, paladar ojival y anomalías esqueléticas menores (p. ej., pectus excavatum, dolicocefalia)."},"it":{"name":"Neuropatia sensitivo-motoria ereditaria con iperelasticità cutanea","definition":"La neuropatia sensitivo-motoria ereditaria con iperelasticità cutanea è una neuropatia motoria e sensoriale demielinizzante ereditaria rara, di origine genetica, caratterizzata da debolezza ed atrofia dei muscoli distali lieve-moderata a progressione lenta negli arti superiori e inferiori, e da deficit sensoriali distali variabili, associati ad iperelasticità della cute di grado variabile e degenerazione maculare correlata all'età. Può associarsi ad ipermobilità delle articolazioni distali, palato ogivale e lievi anomalie scheletriche (ad es. pectus excavatum, dolicocefalia)."},"nl":{"name":"Erfelijke sensomotorische neuropathie met hyperelastische huid","definition":"Erfelijke sensomotorische neuropathie met hyperelastische huid is een zeldzame, genetische, demyeliniserende, erfelijke motorische en sensorische neuropathie die gekarakteriseerd wordt door traag progressieve, milde tot matige zwakte en atrofie van distale spieren van de bovenste en onderste ledematen en variabele distale sensorische stoornis, geassocieerd met variabel hyperelastische huid en leeftijdsgerelateerde degeneratie van de macula. Hypermobiliteit van distale gewrichten, hoog verhemelte, en kleine afwijkingen van het skelet (e.g. pectus excavatum, dolichocefalie) kunnen ook geassocieerd zijn."},"pt":{"name":"Neuropatia sensitivomotora hereditária com pele hiperelástica"},"pl":{"name":"Dziedziczna neuropatia czuciowo-ruchowa z nadmiernie elastyczną skórą","definition":"*Dziedziczna neuropatia czuciowo-ruchowa z nadmiernie elastyczną skórą jest rzadką postacią genetycznie uwarunkowanej dziedzicznej neuropatii demielinizacyjnej czuciowo-ruchowej, która charakteryzuje się powoli postępującym, łagodnym lub umiarkowanym osłabieniem i zanikiem dystalnych mięśni kończyn górnych i dolnych oraz zmiennymi zaburzeniami czucia w odcinkach dystalnych, którym towarzyszy nadmierna elastyczność skóry o różnym stopniu nasilenia oraz zwyrodnienie plamki związane z wiekiem. Może również towarzyszyć nadmierna ruchomość dystalnych stawów, wysokie podniebienie i drobne nieprawidłowości kostne (np. klatka piersiowa szewska, długogłowie)."},"cs":{"name":"Hereditární senzorimotorická neuropatie s hyperelastickou kůží"},"uk":{"name":"Спадкова сенсомоторна нейропатія з гіпереластичною шкірою","definition":"A rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated."},"zh":{"name":"遗传性感觉运动神经病伴皮肤高弹性","definition":"遗传性感觉运动神经病伴超弹性皮肤是一种罕见的遗传性脱髓鞘运动感觉神经病，其特征是缓慢进行、轻-中度远端肌无力和上下肢肌肉萎缩，可变的远端感觉障碍，与可变的皮肤过度伸展和年龄相关性黄斑变性相关。也可能与远端关节过度活动、高腭和轻读骨骼异常（如漏斗胸、长头畸形）相关。"},"tr":{"name":"Hiperelastik deri ile seyreden kalıtsal sensörimotor nöropati"}},"xrefs":[{"source":"OMIM","code":"608895","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"691133799"},{"source":"MONDO","code":"0017237","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190690","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"FBLN5","name":"fibulin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21576112[PMID]","hgnc":"3602","ensembl":"ENSG00000140092","omim":"604580","loci":["14q32.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"21576112[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}