{"orpha":538574,"name":"Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome"],"definition":"A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near&#8208;normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-538574/","orphanet_url":"https://www.orpha.net/en/disease/detail/538574","names":{"fr":{"name":"Syndrome de kératodermie palmoplantaire-neuropathie sensitivomotrice héréditaire","synonyms":["Syndrome de kératodermie palmoplantaire-Charcot-Marie-Tooth"],"definition":"Neuropathie sensitivomotrice axonale héréditaire autosomique dominante rare d'origine génétique, caractérisée par une kératodermie palmoplantaire à début infantile associée à une polyneuropathie sensitivomotrice se manifestant par une atrophie et une faiblesse musculaires des membres inférieurs à prédominance distale et à début tardif (associés, à un stade ultérieur, à une faiblesse proximale légère et à une atteinte des membres supérieurs), un trouble sensoriel modéré (hypoesthésie affectant les mains et les avant-bras, ainsi que les pieds et la partie inférieure des jambes), et une vitesse de conduction nerveuse normale ou quasi-normale. Inconstantes, les autres manifestations comprennent un trouble du sens vibratoire, une diminution des réflexes tendineux, une paresthésie, des douleurs, un pied bot, des pieds creux et une dystrophie unguéale."},"de":{"name":"Palmoplantarkeratose-HMNS-Syndrom","synonyms":["Palmoplantarkeratose-Charcot-Marie-Tooth-Syndrom"],"definition":"Eine autosomal-dominante, axonale, motorische und sensorische Neuropathie, die durch eine im Kindesalter auftretende Palmoplantarkeratose gekennzeichnet ist, die mit einer motorischen und sensorischen Polyneuropathie einhergeht. Diese manifestiert sich mit spät einsetzender, vorwiegend distaler Muskelschwäche und -atrophie der unteren Gliedmaßen (später verbunden mit einer leichten proximalen Schwäche und einer Beteiligung der oberen Gliedmaßen), einer mäßigen sensorischen Beeinträchtigung (Hypoästhesie mit Strumpfhandschuhverteilung) und normalen oder nahezu normalen Nervenleitgeschwindigkeiten. Zu den zusätzlichen variablen Merkmalen gehören beeinträchtigtes Vibrationsempfinden, reduzierte Sehnenreflexe, Parästhesien, Schmerzen, Talipes equinovarus, Pes cavus und Nageldystrophie."},"es":{"name":"Síndrome de queratodermia palmoplantar-neuropatía sensitivo-motora hereditaria","synonyms":["Síndrome de queratodermia palmoplantar-Charcot-Marie-Tooth"],"definition":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica dominante, de origen genético y poco frecuente, caracterizada por queratodermia palmoplantar de inicio en la infancia asociada a polineuropatía sensitivo-motora de inicio tardío que se manifiesta como debilidad y atrofia muscular de las extremidades inferiores, predominantemente distal (que posteriormente asocia una leve debilidad proximal y afectación de las extremidades superiores), deterioro sensitivo moderado (hipoestesia con distribución 'en guante y calcetín') y velocidad de conducción nerviosa normal o casi normal. Otras manifestaciones adicionales incluyen alteración de la sensibilidad vibratoria, reducción de los reflejos osteotendinosos, parestesia, dolor, pie zambo, pie cavo y distrofia ungueal."},"it":{"name":"Sindrome da cheratoderma palmoplantare-neuropatia sensoriale e motoria","definition":"Si tratta di una neuropatia sensitivo-motoria assonale ereditaria rara, di origine genetica, a trasmissione autosomica dominante, che esordisce durante l'infanzia con cheratoderma palmoplantare associato a polineuropatia motoria e sensoriale. La malattia si manifesta con debolezza e atrofia muscolare per lo più distale ad esordio tardivo (successivamente associata a una lieve debolezza prossimale e all'interessamento degli arti superiori), deficit sensoriali moderati (ipoestesia distribuita a guanto) e velocità di conduzione dei nervi normale o pressoché normale. Altri segni clinici variabili sono la compromissione del senso della vibrazione, la riduzione dei riflessi tendinei, le parestesie, il dolore, i piedi equino-vari, il piede cavo e la distrofia ungueale."},"nl":{"name":"Palmoplantaire keratodermie - erfelijke motorische en sensorische neuropathie-syndroom","synonyms":["Palmoplantaire keratodermie - Charcot-Marie-Tooth-syndroom"],"definition":"Een zeldzame, genetische, autosomaal dominante, erfelijke axonale motorische en sensorische neuropathie gekarakteriseerd door aanvang in de kindertijd van palmoplantaire keratodermie geassocieerd met motorische en sensorische polyneuropathie die zich manifesteert met laat aanvangende, voornamelijk distale, spierzwakte en -atrofie van de onderste ledematen (later associatie met milde proximale zwakte en betrokkenheid van bovenste ledematen), matige sensorische beperking (hypo-esthesie aan handen en voeten), en normale of bijna normale zenuwgeleidingssnelheden. Bijkomende variabele manifestaties zijn onder meer verstoorde vibratiezin, verminderde peesreflexen, paresthesie, pijn, talipes equinovarus (klompvoet), pes cavus (holvoet), en nageldystrofie."},"pt":{"name":"Síndrome de queratodermia palmoplantar-neuropatia sensitiva e motora hereditária"},"pl":{"name":"Zespół rogowca dłoni i stóp i dziedzicznej neuropatii czuciowej i ruchowej","synonyms":["Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome"]},"cs":{"name":"Syndrom zahrnující palmoplantární keratodermu a hereditární motorickou a senzorickou neuropatii","synonyms":["Syndrom zahrnující palmoplantární keratodermu a Charcot-Marie-Toothovu chorobu"]},"uk":{"name":"Синдром долонно-підошовної кератодермії-спадкової моторної та сенсорної нейропатії","synonyms":["Синдром долонно-підошовної кератодермії-Шарко-Марі-Тута"],"definition":"A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifestating with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near&#8208;normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy."},"zh":{"name":"掌跖皮肤角皮病-遗传性运动和感觉性神经病综合征","synonyms":["掌跖皮肤角皮病-夏科-马里-图斯病综合征"],"definition":"一种罕见的、遗传的、常染色体显性遗传性轴索运动和感觉神经病变疾病，其特点是儿童期掌跖角化病伴有运动和感觉多神经病变，表现为晚期的、以远端为主的下肢肌无力和萎缩（以后伴轻度的近端肌无力且上肢受累），中度感觉障碍（感觉迟钝及袜套样感觉分布），神经传导速度正常或接近‐正常。其他可变的表现包括振动感觉受损、腱反射减弱、感觉异常、疼痛、马蹄内翻足、高弓足和甲营养不良。"},"tr":{"name":"Palmoplantar keratoderma-kalıtsal motor ve duyusal nöropati sendromu","synonyms":["Palmoplantar keratoderma-Charcot-Marie-Tooth sendromu"]}},"xrefs":[{"source":"OMIM","code":"148360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007853","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835671","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":140456,"name":"Autosomal dominant hereditary axonal motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KRT1","name":"keratin 1","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"27639257[PMID]","hgnc":"6412","ensembl":"ENSG00000167768","omim":"139350","loci":["12q13.13"]},{"symbol":"MPZ","name":"myelin protein zero","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"27639257[PMID]","hgnc":"7225","ensembl":"ENSG00000158887","omim":"159440","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"6446889[PMID]_2976839[PMID]_27639257[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6446889[PMID]_2976839[PMID]_27639257[PMID]"}],"phenotypes":null}