{"orpha":99953,"name":"Charcot-Marie-Tooth disease type 4G","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4G","HMSNR","Hereditary motor and sensory neuropathy, Russe Type"],"definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities. It was mainly reported in European Roma communities due to founder variants.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99953/","orphanet_url":"https://www.orpha.net/en/disease/detail/99953","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4G","synonyms":["CMT4G","Neuropathie sensitivo-motrice héréditaire type Russe"],"definition":"Forme de la maladie de Charcot-Marie-Tooth type 4 caractérisée par l'apparition en début d'enfance d'une faiblesse et d'une atrophie musculaires distales progressives, d'un retard de développement moteur, d'une atteinte sensorielle surtout distale, d'une aréflexie, d'un ralentissement modéré des vitesses de conduction nerveuse, ainsi que des déformations des mains et des pieds. Cette forme a été principalement rapportée au sein des communautés roms européennes en raison de mutations fondatrices."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4G","synonyms":["CMT4G","Neuropathie, hereditäre motorisch-sensorische, Typ Russe"],"definition":"Der Typ 4G der Charcot-Marie-Tooth-Krankheit (CMT4G) ist eine demyelinisierende, periphere, sensomotorische CMT-Polyneuropathie, die bei bulgarischen, rumänischen, französischen und spanischen Roma identifiziert wurde und auch als Hereditäre sensomotorische Neuropathie Russe (HMSNR) bezeichnet wird. Sie ist gekennzeichnet durch eine im frühen Kindesalter beginnende progressive distale Muskelschwäche und -atrophie, eine verzögerte motorische Entwicklung, eine ausgeprägte distale sensorische Beeinträchtigung, Areflexie, mäßig reduzierte Nervenleitgeschwindigkeiten und Fuß- und Handdeformitäten."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4G","definition":"Es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 caracterizado por un inicio en la infancia temprana de debilidad y atrofia muscular distal, retraso del desarrollo motor, marcada afectación sensitiva distal, arreflexia, reducción moderada de la velocidad de conducción nerviosa y deformidades de las manos y de los pies en la etnia gitana de los Balcanes (Russe)."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4G","synonyms":["Neuropatia sensitivo-motoria ereditaria, tipo Russe"],"definition":"La malattia di Charcot-Marie-Tooth, tipo 4G (CMT4G) è un sottotipo della malattia di Charcot-Marie-Tooth tipo 4. E' caratterizzata da debolezza e atrofia progressive dei muscoli distali ad esordio nella prima infanzia, ritardo dello sviluppo motorio, evidente deficit sensoriale distale, areflessia, moderata riduzione delle velocità di conduzione nervosa e deformità delle mani e dei piedi nelle popolazioni Rom dei Balcani."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4G","synonyms":["CMT4G","HMSNR","Hereditaire motorische en sensorische neuropathie, Russe-type"],"definition":"Ziekte van Charcot-Marie-Tooth 4G (CMT4G) is een subtype van Charcot-Marie-Tooth type 4 dat wordt gekarakteriseerd aanvang in de vroege kindertijd van progressieve distale spierzwakheid en -atrofie, vertraagde motorische ontwikkeling, uitgesproken beperking van de distale zintuigen, areflexie, matig gereduceerde zenuwgeleidingssnelheden, en misvormingen van voeten en handen bij zigeuners uit de Balkan (Russe)."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4G","definition":"A doença de Charcot-Marie-Tooth, tipo 4G (CMT4G) é uma polineuropatia periférica sensitivomotora desmielinizante sendo também referida como neuropatia sensitivomotora hereditária do tipo Russe (HMSNR)."},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4G","synonyms":["CMT4G","Dziedziczna neuropatia ruchowa i czuciowa, typu Russego","HMSNR"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4G","synonyms":["CMT4G","HMSNR","Hereditární motorická a senzorická neuropatie, typ Russe","Charcot-Marie-Toothova nemoc, typ 4G"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4G","synonyms":["CMT4G","Спадкова моторна та сенсорна нейропатія, тип Руссе","HMSNR"],"definition":"Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies."},"zh":{"name":"腓骨肌萎缩症4G型","synonyms":["Russe型遗传性运动感觉神经病"],"definition":"Charcot-Marie-Tooth病4G型(CMT4G)是4型Charcot-Marie-Tooth病的一个亚型，其特征为在巴尔干(俄罗斯)吉普赛人中，幼年早期出现进行性远端肌肉无力和萎缩、运动发育迟缓、明显的远端感觉障碍、反射障碍、神经传导速度中度减慢以及足部和手部畸形。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 4G","synonyms":["CMT4G","HMSNR","Kalıtsal motor ve duyusal nöropati, Russe Tipi"]}},"xrefs":[{"source":"OMIM","code":"605285","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"995395080"},{"source":"MONDO","code":"0011534","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535813","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854449","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10132","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64749,"name":"Charcot-Marie-Tooth disease type 4","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HK1","name":"hexokinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19536174[PMID]","hgnc":"4922","ensembl":"ENSG00000156515","omim":"142600","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Czech Republic","status":"Validated","source":"26822750[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-26","source":"11601496[PMID]_22978647[PMID]_20301641[PMID]_26822750[PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007230","label":"Decreased distal sensory nerve action potential","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007108","label":"Demyelinating peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003409","label":"Distal sensory impairment of all modalities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012078","label":"Motor conduction block","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011096","label":"Peripheral demyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010830","label":"Impaired tactile sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009129","label":"Upper limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}