{"orpha":101085,"name":"Charcot-Marie-Tooth disease type 1F","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT1F"],"definition":"Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the <i>NEFL</i> gene (8p21.2).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101085/","orphanet_url":"https://www.orpha.net/en/disease/detail/101085","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 1F","synonyms":["CMT1F"],"definition":"Forme de maladie de Charcot-Marie-Tooth type&nbsp;1 (CMT1) dont le tableau clinique varie entre une atteinte sévère apparaissant dans l'enfance et une atteinte légère apparaissant à l'âge adulte. La CMT1F se caractérise par une neuropathie sensitivo-motrice périphérique progressive, avec une parésie distale des membres inférieurs allant d'une légère faiblesse à une paralysie complète des groupes des muscles distaux, une absence de réflexe tendineux et un ralentissement de la vitesse de conduction nerveuse. Forme «&nbsp;démyélinisante&nbsp;» de la CMT2E, la CMT1F est causée par des mutations du gène <i>NEFL</i> (8p21.2)."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 1F","synonyms":["CMT1F"],"definition":"Die Charcot-Marie-Tooth-Erkrankung Typ 1F (CMT1F) ist eine Form der CMT1 (siehe dort), mit einer variablen klinischen Ausprägung, die von schwerer Beeinträchtigung mit Beginn im Kindesalter bis hin zu geringen Beeinträchtigungen, die erst im Erwachsenenalter auftreten, reichen kann. Die CMT1F ist durch eine progressive periphere motorische und sensible Neuropathie mit distalen Paresen in den unteren Extremitäten gekennzeichnet, die von milder Muskelschwäche bis hin zu kompletter Paralyse der distalen Muskelgruppen, fehlenden Muskeleigenreflexe und reduzierter Nervenleitgeschwindigkeit variieren können. Die CMT1F repräsentiert die ,,demyelinisierende'' Form der CMT2E (siehe dort) und wird durch Mutationen im <i>NEFL</i>-Gen (8p21.2) verursacht."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 1F","definition":"Es una forma de la CMT1 con un cuadro clínico variable que puede ir desde discapacidad grave de inicio en la infancia a discapacidad leve de aparición en la edad adulta. Está caracterizada por neuropatía periférica progresiva sensitiva y motora con paresia distal en las extremidades inferiores que varía desde una ligera debilidad a parálisis completa de grupos de músculos distales, ausencia de reflejos tendinosos y disminución de la velocidad de conducción nerviosa. Esta enfermedad constituye la forma ''desmielinizante'' de la CMT2E y está causada por mutaciones en el gen <i>NEFL</i> (8p21.2)."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 1F","synonyms":["CMT1F"],"definition":"La malattia di Charcot-Marie-Tooth tipo 1F (CMT1F) è una forma di CMT1 (si veda questo termine), con un quadro clinico che varia da menomazioni gravi a esordio infantile a un quadro clinico lieve a esordio nell'età adulta. La CMT1F si caratterizza per una neuropatia sensitivo-motoria periferica con paralisi distale degli arti inferiori, che varia dalla debolezza lieve alla paralisi completa dei muscoli distali, all'assenza dei riflessi tendinei e alla riduzione della conduzione nervosa. La CMT1F è la forma \"demielinizzante\" della CMT2E (si veda questo termine) ed è causata dalle mutazioni del gene <i>NEFL</i> (8p21.2)."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 1F","synonyms":["CMT1F"],"definition":"Ziekte van Charcot-Marie-Tooth type 1F (CMT1F) is een vorm van CMT1 met een variabel klinisch beeld dat kan gaan van ernstige aantasting met aanvang in de kindertijd tot milde aantasting met aanvang op volwassen leeftijd. CMT1F wordt gekarakteriseerd door een progressieve perifere motorische en sensorische neuropathie met distale parese in de onderste ledematen die varieert van milde zwakte tot volledige paralyse van de distale spiergroepen, afwezigheid van peesreflexen, en gereduceerde zenuwgeleiding. CMT1F vertegenwoordigt de ''demyeliniserende'' vorm van CMT2E en wordt veroorzaakt door mutaties in het gen <i>NEFL</i> (8p21.2)."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 1F"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 1F","synonyms":["CMT1F"],"definition":"Choroba Charcota, Mariego i Tootha typu 1F (CMT1F) to postać CMT1 (sprawdź ten termin) ze zmiennym obrazem klinicznym - od znacznej niepełnosprawności z początkiem choroby w dzieciństwie do łagodnej niepełnosprawności pojawiającej się w wieku dorosłym. CMT1F charakteryzuje się postępującą, obwodową neuropatią czuciową i ruchową z dystalnym porażeniem w kończynach dolnych, który może przybrać formę od łagodnego osłabienia do całkowitego paraliżu dystalnych mięśni kończyn, brakiem odruchów ścięgnistych i obniżonym przewodnictwem mięśniowym. CMT1F stanowi „demielinizującą” postać CMT2E (sprawdź ten termin) i jest spowodowana mutacjami genu NEFL (8p21.2)."},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 1F","synonyms":["CMT1F","Charcot-Marie-Toothova nemoc, typ 1F"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 1F","synonyms":["CMT1F"],"definition":"Charcot-Marie-Tooth disease type 1F (CMT1F) is a form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the <i>NEFL</i> gene (8p21.2)."},"zh":{"name":"夏科-马里-图斯病1F型","synonyms":["CMT1F"],"definition":"Charcot-Marie-Tooth病1F型(CMT1F)是CMT1的一种，临床表现多种多样，从儿童期起病的严重损害到成年后出现的轻度损害。CMT1F的特点是进行性外周运动和感觉神经病，并伴有下肢远端瘫痪，从轻度无力到远端肌群完全瘫痪，肌腱反射缺失和神经传导减弱。CMT1F代表CMT2E的“脱髓鞘”形式，由NEFL 基因突变(8p21.2)引起。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 1F","synonyms":["CMT1F"]}},"xrefs":[{"source":"OMIM","code":"607734","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":"1160290076"},{"source":"MONDO","code":"0011902","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537987","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843164","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":65753,"name":"Charcot-Marie-Tooth disease type 1","classifications":[156,181]}],"children":[],"genes":[{"symbol":"NEFL","name":"neurofilament light chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301384[PMID]","hgnc":"7739","ensembl":"ENSG00000277586","omim":"162280","loci":["8p21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301366[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-09","source":"27088055[PMID]_20301532[PMID]_28501821[PMID]_31574566[PMID]","terms":[{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007220","label":"Demyelinating motor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011402","label":"Demyelinating sensory neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004463","label":"Absent brainstem auditory responses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010873","label":"Cervical spinal cord atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003387","label":"Decreased number of large peripheral myelinated nerve fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007149","label":"Distal upper limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009130","label":"Hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030237","label":"Hand muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002346","label":"Head tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007327","label":"Mixed demyelinating and axonal polyneuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002403","label":"Positive Romberg sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008956","label":"Proximal lower limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008994","label":"Proximal muscle weakness in lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012452","label":"Restless legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012473","label":"Tongue atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very rare (<4-1%)","criteria":null}]}}