{"orpha":99947,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2A2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT2A2"],"definition":"A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99947/","orphanet_url":"https://www.orpha.net/en/disease/detail/99947","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth autosomique dominante type 2A2","synonyms":["CMT2A2"],"definition":"Un sous-type de maladie de Charcot-Marie-Tooth autosomique dominante type 2 caractérisé par la survenue pendant l'enfance d'une faiblesse et d'une aréflexie distales (l'atteinte étant plus précoce et plus sévère au niveau des extrémités inférieures), une diminution des modalités sensitives (surtout pour la sensation de la douleur et de la température), des malformations des pieds, un tremblement postural, une scoliose et des contractures. Une atrophie optique, une paralysie des cordes vocales avec dysphonie, une surdité neurosensorielle, des anomalies de la moelle épinière et une hydrocéphalie ont aussi été rapportées."},"de":{"name":"Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2A2","definition":"Ein Subtyp der autosomal-dominanten Charcot-Marie-Tooth-Krankheit Typ 2, der durch das Auftreten von distaler Schwäche und Areflexie (mit früherer und stärkerer Beteiligung der unteren Extremitäten) im Kindesalter, reduzierten sensorischen Funktionen (vor allem Schmerz- und Temperaturempfinden), Fußfehlbildungen, posturalem Tremor, Skoliose und Kontrakturen gekennzeichnet ist. Es wurde auch über Optikusatrophie, Stimmbandlähmung mit Dysphonie, sensorineurale Schwerhörigkeit, Rückenmarksanomalien und Hydrozephalus berichtet."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2A2","definition":"Es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 2 autosómica dominante caracterizado por el inicio en la infancia de debilidad distal y arreflexia (con una afectación más temprana y más grave de las extremidades inferiores), modalidades sensoriales reducidas (principalmente sensibilidad al dolor y la temperatura), deformidades del pie, temblor postural, escoliosis y contracturas. También se ha descrito atrofia óptica, parálisis de las cuerdas vocales con disfonía, pérdida auditiva neurosensorial, anomalías espinales e hidrocefalia."},"it":{"name":"Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2A2","synonyms":["CMT2A2"],"definition":"La malattia di Charcot-Marie-Tooth autosomica dominante tipo 2A2 (CMT2A2) è un sottotipo della malattia di Charcot-Marie-Tooth autosomica dominante tipo 2. È caratterizzata da debolezza distale e areflessia (che interessano dapprima e in maniera più grave gli arti inferiori), riduzione delle funzioni sensoriali (soprattutto la sensazione del dolore e la percezione della temperatura), deformità dei piedi, tremore posturale, scoliosi e contratture. L'esordio avviene nell'infanzia. Sono stati descritti pazienti con atrofia ottica, paralisi delle corde vocali con disfonia, sordità neurosensoriale, anomalie del midollo spinale e idrocefalo."},"nl":{"name":"Autosomaal dominante ziekte van Charcot-Marie-Tooth type 2A2","synonyms":["CMT2A2"],"definition":"Een subtype van autosomaal dominante ziekte van Charcot-Marie-Tooth type 2, gekarakteriseerd door aanvang in de kindertijd van distale zwakte en areflexie (met vroegere en ernstigere betrokkenheid van onderste ledematen), verminderde zintuiglijke modaliteiten (voornamelijk wat betreft waarneming van pijn en temperatuur), voetmisvormingen, posturale tremor, scoliose en contracturen. Opticusatrofie, stembandverlamming met dysfonie, sensorineuraal gehoorverlies, afwijkingen van ruggenmerg en hydrocefalie werden ook reeds gerapporteerd."},"pt":{"name":"Doença de Charcot-Marie-Tooth autossómica dominante tipo 2A2"},"pl":{"name":"Autosomalna dominująca choroba Charcota, Mariego i Tootha typu 2A2","synonyms":["CMT2A2"]},"cs":{"name":"Autozomálně dominantní Charcotova-Marieova-Toothova nemoc, typ 2A2","synonyms":["CMT2A2","Autozomálně dominantní Charcot-Marie-Toothova nemoc, typ 2A2"]},"uk":{"name":"Аутосомно-домінантна хвороба Шарко-Марі-Тута, тип 2А2","synonyms":["CMT2A2"],"definition":"A subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported."},"zh":{"name":"常染色体显性遗传腓骨肌萎缩症2A2型","synonyms":["CMT2A2"],"definition":"常染色体显性遗传性Charcot-Marie-Tooth病2A2型是常染色体显性遗传性Charcot-Marie-Tooth病2型亚型，其特征是童年时出现远端无力和反射不全(下肢受累更早和更严重)、感觉功能减退(主要是疼痛和温度感觉)、足部畸形、姿势震颤、脊柱侧弯和挛缩。视神经萎缩、声带麻痹伴发音困难、感音神经性耳聋、脊髓畸形和脑积水也曾有报道。"},"tr":{"name":"Otozomal dominant Charcot-Marie-Tooth hastalığı tip 2A2","synonyms":["CMT2A2"]}},"xrefs":[{"source":"OMIM","code":"609260","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1274363794"},{"source":"MONDO","code":"0012231","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4721887","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":64746,"name":"Autosomal dominant Charcot-Marie-Tooth disease type 2","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":"20301462[PMID]","hgnc":"16877","ensembl":"ENSG00000116688","omim":"608507","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"21715711[PMID]_21715704[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-01","source":"30642740[PMID]_30649465[PMID]_27043305[PMID]_27154191[PMID]_9409358[PMID]_18946002[PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","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:0002522","label":"Areflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty running","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025238","label":"Foot pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","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:0007328","label":"Impaired pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006460","label":"Increased laxity of ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002601","label":"Paresis of extensor muscles of the big toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006844","label":"Absent patellar reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008944","label":"Distal lower limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006915","label":"Inability to walk by childhood/adolescence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003731","label":"Quadriceps muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012452","label":"Restless legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003376","label":"Steppage gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031108","label":"Triceps weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012513","label":"Upper limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001605","label":"Vocal cord paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}