{"orpha":99950,"name":"Charcot-Marie-Tooth disease type 4D","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMT4D","HMSN, Lom type","HMSN-Lom","Hereditary motor and sensory neuropathy, Lom type"],"definition":"A form of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. It was initially reported in the Lom Roma community due to a common founder variant, and called hereditary motor and sensory neuropathy, Lom type. Other variants were reported since.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99950/","orphanet_url":"https://www.orpha.net/en/disease/detail/99950","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 4D","synonyms":["CMT4D","HMSN type Lom","HMSN-Lom","NSMH type Lom","NSMH-Lom","Neuropathie sensitivo-motrice héréditaire type Lom"],"definition":"Forme de la maladie de Charcot-Marie-Tooth type 4 caractérisée par l'apparition pendant l'enfance d'une neuropathie sensitivo-motrice démyélinisante progressive et sévère, se manifestant par une faiblesse et une atrophie musculaires distales, une atteinte auditive neurosensorielle conduisant à une surdité (généralement au cours de la trentaine), un important ralentissement des vitesses de conduction nerveuse et des déformations squelettiques touchant surtout le pied. Une atrophie de la langue a aussi été rapportée. Décrite initialement au sein de la communauté rom de Lom en raison d'un variant fondateur, la maladie a été nommée « neuropathie sensitivo-motrice type Lom ». D'autres variants ont été décrits depuis."},"de":{"name":"Charcot-Marie-Tooth-Krankheit Typ 4D","synonyms":["CMT4D","HMSN, Typ Lom","Neuropathie, hereditäre motorisch-sensorische, Typ Lom"],"definition":"Die Charcot-Marie-Tooth-Krankheit Typ 4D (CMT4D) ist ein Subtyp von CMT Typ 4 und ist gekennzeichnet durch eine im Kindesalter auftretende, schwere, fortschreitende demyelinisierende sensorisch-motorische Neuropathie. Klinisch zeigt sich eine distale Muskelschwäche und -atrophie, eine sensorineurale Hörminderung bis zur Taubheit (in der Regel im dritten Lebensjahrzehnt) sowie stark verminderte Nervenleitgeschwindigkeiten und Skelettfehlbildungen, insbesondere der Füße. Auch eine Zungenatrophie wurde berichtet."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 4D","synonyms":["CMT4D","HMSN tipo Lom","HMSN-Lom","Neuropatía hereditaria sensitivo-motora, tipo Lom"],"definition":"La enfermedad de Charcot-Marie-Tooth tipo 4D (CMT4D) es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 caracterizado por una neuropatía sensitivo-motora desmielinizante grave y progresiva de inicio en la infancia, manifestándose con debilidad y atrofia muscular distal, hipoacusia neurosensorial conducente a sordera (por lo general, en la tercera década de vida), velocidades de conducción nerviosa gravemente reducidas y deformidades esqueléticas, especialmente de los pies. También se ha descrito atrofia lingual."},"it":{"name":"Malattia di Charcot-Marie-Tooth, tipo 4D","synonyms":["CMT4D","HMSN, tipo Lom","HMSN-Lom","Neuropatia sensitivo-motoria ereditaria, tipo Lom"],"definition":"La malattia di Charcot-Marie-Tooth, tipo 4D (CMT4D) è un sottotipo della malattia di Charcot-Marie-Tooth tipo 4. E' caratterizzata da neuropatia sensitivo-motoria demielinizzante grave e progressiva ad esordio nell'infanzia, con debolezza e atrofia dei muscoli distali, deficit neurosensoriale che esita nella sordità (di solito nella terza decade di vita), velocità di conduzione nervosa gravemente ridotta e deformità scheletriche, in particolare dei piedi. Può essere presente anche atrofia della lingua."},"nl":{"name":"Ziekte van Charcot-Marie-Tooth type 4D","synonyms":["CMT4D","HMSN, Lom-type","HMSN-Lom","Hereditaire motorische en sensorische neuropathie, Lom-type"],"definition":"Ziekte van Charcot-Marie-Tooth type 4D (CMT4D) is een subtype van ziekte van Charcot-Marie-Tooth type 4 en wordt gekarakteriseerd door ernstige, progressieve, demyeliniserende sensorimotorische neuropathie die aanvangt tijdens de kindertijd en zich manifesteert met zwakte en atrofie van distale spieren, sensorineuraal gehoorverlies dat leidt tot doofheid (meestal tijdens het derde levensdecennium), sterk gereduceerde zenuwgeleidingssnelheden, en skeletmisvormingen, voornamelijk van de voeten. Tongatrofie werd eveneens gerapporteerd."},"pt":{"name":"Doença de Charcot-Marie-Tooth tipo 4D"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 4D","synonyms":["CMT4D","Dziedziczna neuropatia ruchowa i czuciowa, typ Loma","HMSN, typ Loma","HMSN-Lom"]},"cs":{"name":"Charcotova-Marieova-Toothova nemoc, typ 4D","synonyms":["CMT4D","HMSN, lomský typ","Lomská HMSN","Hereditární motorická a senzorická neuropatie, lomský typ","Charcot-Marie-Toothova nemoc, typ 4D"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 4D","synonyms":["CMT4D","Спадкова моторна та сенсорна нейропатія, тип Лом","HMSN, тип Lom","HMSN-Lom"],"definition":"Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported."},"zh":{"name":"腓骨肌萎缩症4D型","synonyms":["Lom型HMSN"],"definition":"Charcot-Marie-Tooth病4D(CMT4D)是Charcot-Marie-Tooth病4型的一个亚型，其特征是儿童时期起病，表现为严重的、进行性的、脱髓鞘的感觉运动神经病，表现为远端肌肉无力和萎缩、感觉神经性听力障碍导致耳聋(通常在第三个十年)、神经传导速度严重减慢，以及骨骼特别是足部畸形。舌头萎缩也有报道。"},"tr":{"name":"Charcot-Marie-Tooth hastalığı tip 4D","synonyms":["CMT4D","HMSN-Lom","HMSN, Lom tip","Kalıtsal motor ve duyusal nöropati, Lom tipi"]}},"xrefs":[{"source":"OMIM","code":"601455","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":"616686295"},{"source":"MONDO","code":"0011085","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535716","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832334","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":"NDRG1","name":"N-myc downstream regulated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10831399[PMID]_20301641[PMID]","hgnc":"7679","ensembl":"ENSG00000104419","omim":"605262","loci":["8q24.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-11","source":"28003645[PMID]_24136616[PMID]","terms":[{"hpo":"HP:0007078","label":"Decreased amplitude of sensory action potentials","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:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007210","label":"Lower limb amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001765","label":"Hammertoe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002174","label":"Postural tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032649","label":"Skewfoot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009129","label":"Upper limb amyotrophy","frequency":"Occasional (29-5%)","criteria":null}]}}