{"orpha":90103,"name":"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CMT-deafness-intellectual disability syndrome","Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome","Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers","Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers"],"definition":"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90103/","orphanet_url":"https://www.orpha.net/en/disease/detail/90103","names":{"fr":{"name":"Syndrome de maladie de Charcot-Marie-Tooth-surdité-déficience intellectuelle","synonyms":["Neuropathie héréditaire avec surdité, déficience intellectuelle et absence de fibres sensitives myélinisées de gros calibre"],"definition":"Le syndrome de maladie de Charcot-Marie-Tooth-surdité-déficience intellectuelle est une neuropathie motrice et sensorielle démyélinisante, héréditaire et rare. Il se caractérise par l'apparition précoce d'une faiblesse et d'une atrophie musculaires distales, lentement progressives, sans atteinte sensorielle, d'une surdité neurosensorielle congénitale et d'un léger déficit intellectuel (avec atteinte du développement de la parole). L'absence de larges fibres myélinisées en biopsie du nerf sural est aussi caractéristique de la maladie."},"de":{"name":"Charcot-Marie-Tooth-Krankheit-Schwerhörigkeit-Intelligenzminderung-Syndrom","synonyms":["Charcot-Marie-Tooth-Krankheit-Hörverlust-Intelligenzminderung-Syndrom","HMNS mit Taubheit, Intelligenzminderung und fehlenden sensiblen großen markhaltigen Nervenfasern","Hereditäre motorische und sensorische Neuropathie mit Taubheit, Intelligenzminderung und fehlenden sensorischen markhaltigen Fasern"],"definition":"Eine seltene demyelinisierende hereditäre motorische und sensorische Neuropathie, die durch eine früh einsetzende, langsam fortschreitende, distale Muskelschwäche und -atrophie ohne sensorische Beeinträchtigung, eine kongenitale sensorineurale Taubheit und eine leichte Intelligenzminderung (mit Fehlen einer normalen Sprachentwicklung) gekennzeichnet ist. Das Fehlen großer myelinisierter Fasern bei der Biopsie des Suralnervs ist ebenfalls charakteristisch für diese Krankheit."},"es":{"name":"Síndrome de enfermedad de Charcot-Marie-Tooth-sordera-discapacidad intelectual","synonyms":["Neuropatía sensitivo-motora hereditaria con hipoacusia, discapacidad intelectual y ausencia de fibras sensitivas mielinizadas de gran calibre","Neuropatía sensitivo-motora hereditaria con sordera, discapacidad intelectual y ausencia de fibras sensitivas mielinizadas de gran calibre","Síndrome de CMT-sordera-discapacidad intelectual","Síndrome de Charcot-Marie-Tooth-hipoacusia-discapacidad intelectual","Síndrome de enfermedad de Charcot-Marie-Tooth-hipoacusia-discapacidad intelectual"],"definition":"El síndrome de Charcot-Marie-Tooth con sordera y discapacidad intelectual asociadas es una neuropatía sensitivo-motora hereditaria desmielinizante poco frecuente caracterizada por debilidad y atrofia muscular distal de aparición temprana y lentamente progresiva sin afectación sensorial, sordera neurosensorial congénita y discapacidad intelectual leve (con ausencia del desarrollo del habla normal). La ausencia de grandes fibras mielinizadas en la biopsia del nervio sural es igualmente característica de la enfermedad."},"it":{"name":"Sindrome malattia di Charcot-Marie-Tooth-sordità-disabilità intellettiva","synonyms":["Neuropatia motoria e sensitiva ereditaria associata a sordità, disabilità intellettiva e assenza di fibre mielinizzate sensitive di grandi dimensioni","Neuropatia motoria e sensitiva ereditaria associata a sordità, ritardo mentale e assenza di fibre mielinizzate sensitive di grandi dimensioni","Sindrome CMT-sordità-disabilità intellettiva","Sindrome malattia Charcot-Marie-Tooth-sordità-disabilità intellettiva"],"definition":"La Malattia di Charcot-Marie-Tooth con sordità e disabilità intellettiva è una neuropatia motoria e sensoriale demielinizzante rara, caratterizzata da debolezza e atrofia dei muscoli distali a progressione lenta ed esordio precoce senza deficit sensoriali, sordità neurosensoriale congenita e lieve disabilità intellettiva (con anomalie dello sviluppo del linguaggio). La biopsia del nervo surale evidenzia l'assenza di fibre mielinizzate larghe, caratteristica della malattia."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth - doofheid - intellectuele achterstand-syndroom","synonyms":["CMT - doofheid - intellectuele achterstand-syndroom","Hereditaire motorische en sensorische neuropathie met doofheid, intellectuele achterstand en afwezige sensorische grote gemyeliniseerde vezels","Hereditaire motorische en sensorische neuropathie met gehoorverlies, intellectuele achterstand en afwezige sensorische grote gemyeliniseerde vezels","Ziekte van Charcot-Marie-Tooth - gehoorverlies - intellectuele achterstand-syndroom"],"definition":"Ziekte van Charcot-Marie-Tooth - doofheid - intellectuele achterstand-syndroom is een zeldzame demyeliniserende erfelijke motorische en sensorische neuropathie die gekarakteriseerd wordt door vroeg aanvangende, traag progressieve, distale spierzwakte en -atrofie zonder sensorische beperking, congenitale sensorineurale doofheid en milde intellectuele achterstand (met afwezigheid van normale spraakontwikkeling). De afwezigheid van grote gemyeliniseerde vezels bij biopsie van de nervus suralis is ook typisch voor de ziekte."},"pt":{"name":"Síndrome da doença de Charcot-Marie-Tooth-surdez-perturbação do desenvolvimento intelectual","synonyms":["Doença de Charcot-Marie-Tooth-perda auditiva-perturbação do desenvolvimento intelectual","Neuropatia motora e sensorial hereditária com perda auditiva,perturbação do desenvolvimento intelectual e ausência de largas fibras mielinizadas sensoriais","Neuropatia motora e sensorial hereditária com surdez,perturbação do desenvolvimento intelectual e ausência de largas fibras mielinizadas sensoriais","Síndrome CMT-surdez-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Choroba Charcota, Mariego i Tootha - głuchota - niepełnosprawność intelektualna","synonyms":["Dziedziczna neuropatia ruchowa i czuciowa z głuchotą, niepełnosprawnością intelektualną oraz brakiem dużych włókien mielinowych"]},"cs":{"name":"Syndrom zahrnující Charcotovu-Marieovu-Toothovu nemoc, hluchotu a mentální retardaci","synonyms":["Hereditární motorická a senzorická neuropatie s hluchotou, mentální retardací a absencí velkých senzorických myelinizovaných vláken","Syndrom zahrnující Charcot-Marie-Toothovu nemoc, hluchotu a mentální retardaci"]},"uk":{"name":"Синдром хвороби Шарко-Марі-Тута- глухоти-інтелектуальної недостатності","synonyms":["Синдром хвороби Шарко-Марі-Тута - втрати слуху - інтелектуальної недостатності","Синдром ШМТ-глухоти-інтелектуальної недостатності","Спадкова моторна та сенсорна нейропатія з глухотою, інтелектуальною недостатністю та відсутністю сенсорних великих мієлінових волокон","Спадкова моторна та сенсорна нейропатія з втратою слуху, інтелектуальною недостатністю та відсутністю сенсорних великих мієлінових волокон"],"definition":"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease."},"zh":{"name":"腓骨肌萎缩症-耳聋-智力残疾综合征","synonyms":["遗传性运动感觉性神经病伴听力丧失、智力障碍及有髓感觉神经纤维缺失"]},"tr":{"name":"Charcot-Marie-Tooth hastalığı-sağırlık-zihinsel yetersizlik sendromu","synonyms":["Charcot-Marie-Tooth hastalığı-işitme kaybı-zihinsel yetersizlik sendromu","Sağırlık, zihinsel yetersizlik ve duyusal büyük miyelinli liflerin yokluğu ile seyreden kalıtsal motor ve duyusal nöropati","İşitme kaybı, zihinsel yetersizlik ve duyusal büyük miyelinli liflerin yokluğu ile seyreden kalıtsal motor ve duyusal nöropati"]}},"xrefs":[{"source":"OMIM","code":"214370","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.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008960","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706301","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140459,"name":"Autosomal recessive hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"9475604[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9475604[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-02","source":"9591228[PMID]_6705250[PMID]_11231025[PMID]_8585809[PMID]_9475604[PMID]_20301532[PMID]_24434692[PMID]","terms":[{"hpo":"HP:0007078","label":"Decreased amplitude of sensory action potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003387","label":"Decreased number of large peripheral myelinated nerve fibers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008625","label":"Severe sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003438","label":"Absent Achilles reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009031","label":"Amyotrophy of ankle musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002522","label":"Areflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008962","label":"Calf muscle hypoplasia","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:0003409","label":"Distal sensory impairment of all modalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","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:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006938","label":"Impaired vibration sensation at ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009129","label":"Upper limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012046","label":"Areflexia of upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040078","label":"Axonal degeneration","frequency":"Excluded (0%)","criteria":null}]}}