{"orpha":476394,"name":"PMP2-related Charcot-Marie-Tooth disease type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PMP2-related CMT1","PMP2-related Charcot-Marie-Tooth neuropathy type 1","PMP2-related hereditary motor and sensory neuropathy type 1"],"definition":"A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-476394/","orphanet_url":"https://www.orpha.net/en/disease/detail/476394","names":{"fr":{"name":"Maladie de Charcot-Marie-Tooth type 1 associée à PMP2","synonyms":["CMT1 associée à PMP2","Neuropathie Charcot-Marie-Tooth type 1 associée à PMP2","Neuropathie sensitivo-motrice héréditaire type 1 associée à PMP2"],"definition":"Neuropathie sensitivo-motrice démyélinisante héréditaire autosomique dominante rare caractérisée par une faiblesse et une atrophie musculaires distales progressives, une déficience sensorielle distale et une diminution ou une absence de réflexes dans les membres affectés, apparaissant dans la première ou la deuxième décennie de vie. Les vitesses de conduction du nerf moteur médian sont généralement inférieures à 38 m/s. On observe souvent chez ces patients des déformations des pieds. La biopsie du nerf sural révèle une diminution de la densité des fibres myélinisées, des anomalies de la myéline et une prolifération en « bulbes d'oignon ». Le tissu musculaire est remplacé par du tissu graisseux principalement au niveau des compartiments antérieur et latéral de la partie inférieure des jambes."},"de":{"name":"PMP2-abhängige Charcot-Marie-Tooth-Krankheit Typ 1","synonyms":["PMP2-abhängige CMT1","PMP2-abhängige hereditäre motorisch-sensorische Neuropathie Typ 1","SURF1-abhängige Charcot-Marie-Tooth-Neuropathie Typ 1"],"definition":"Eine autosomal-dominant vererbte demyelinisierende motorische und sensorische Neuropathie, die durch fortschreitende distale Muskelschwäche und -atrophie, distale sensorische Beeinträchtigung und verminderte oder fehlende Reflexe in den betroffenen Gliedmaßen gekennzeichnet ist und im ersten oder zweiten Lebensjahrzehnt auftritt. Die Leitungsgeschwindigkeiten des motorischen Medianusnervs liegen typischerweise unter 38 m/s. Die Patienten haben häufig Fehlbildungen der Füße. Die Biopsie des Nervus suralis zeigt eine Abnahme der myelinisierten Fasern, Myelinanomalien und Zwiebelbildung. Ein fetthaltiger Ersatz des Muskelgewebes betrifft vor allem das vordere und seitliche Kompartiment der Unterschenkel."},"es":{"name":"Enfermedad de Charcot-Marie-Tooth tipo 1 asociada al gen PMP2","definition":"Es una neuropatía desmielinizante sensitivo-motora hereditaria autosómica dominante poco frecuente, caracterizada por debilidad y atrofia muscular distal lentamente progresiva, deterioro sensitivo distal y disminución o ausencia de reflejos en las extremidades afectadas, de inicio en la primera o segunda década de la vida. La velocidad de conducción nerviosa motora media es, típicamente, inferior a 38 m/s. Con frecuencia, los pacientes presentan deformidades del pie. La biopsia del nervio sural muestra una disminución de las fibras mielinizadas, anomalías de la mielina y formaciones de ''bulbos de cebolla''. El reemplazo graso del tejido muscular afecta predominantemente al compartimento anterior y lateral de la región inferior de las piernas."},"it":{"name":"Malattia di Charcot-Marie-Tooth tipo 1 correlata a PMP2","definition":"Si tratta di una neuropatia sensitivo-motoria demielinizzante ereditaria rara, a trasmissione autosomica dominante, caratterizzata da debolezza e atrofia progressiva dei muscoli distali, deficit sensoriale distale e riduzione o assenza dei riflessi negli arti interessati. La malattia esordisce nella prima o nella seconda decade. Di solito le velocità medie di conduzione dei nervi sono inferiori a 38 m/s. Spesso i pazienti presentano deformità dei piedi. La biopsia del nervo surale evidenzia una diminuzione delle fibre mielinizzate, anomalie della mielina e la formazione di ''bulbi di cipolla''. La sostituzione grassa del tessuto muscolare interessa prevalentemente la porzione anteriore e laterale della parte inferiore delle gambe."},"nl":{"name":"PMP2-gerelateerde ziekte van Charcot-Marie-Tooth type 1","synonyms":["PMP2-gerelateerde CMT1","PMP2-gerelateerde erfelijke motorische en sensorische neuropathie type 1","PMP2-gerelateerde neuropathie van Charcot-Marie-Tooth type 1"],"definition":"Een zeldzame autosomaal dominante hereditaire demyeliniserende motorische en sensorische neuropathie, gekarakteriseerd door progressieve distale spierzwakte en -atrofie, distale sensorische stoornis, en verminderde of afwezige reflexen in getroffen ledematen, met een aanvang tijdens het eerste of tweede levensdecennium. Mediane motorische zenuwgeleidingssnelheden bedragen doorgaans minder dan 38 m/s. Patiënten hebben vaak voetmisvormingen Biopsie van nervus suralis toont vermindering van het aantal gemyeliniseerde vezels, afwijkingen van myeline, en 'uienbol' formatie. Vervanging van spierweefsel door vet treft hoofdzakelijk de voorste en laterale compartimenten van de onderbenen."},"pt":{"name":"Doença Charcot-Marie-Tooth tipo 1 PMP2-relacionada"},"pl":{"name":"Choroba Charcota, Mariego i Tootha typu 1 zależna od PMP2","synonyms":["CMT1 zależna od PMP2","Dziedziczna neuropatia Charcota, Mariego i Tootha typu 1 zależna od PMP2","Neuropatia Charcota, Mariego i Tootha typu 1 zależna od PMP2"]},"cs":{"name":"PMP2 asociovaná Charcot-Marie-Toothova nemoc, typ 1","synonyms":["PMP2-related CMT1","PMP2-related Charcot-Marie-Tooth neuropathy type 1","PMP2-related hereditary motor and sensory neuropathy type 1","PMP2 asociovaná CMT1","PMP2 asociovaná Charcot-Marie-Toothova neuropatie typ 1","PMP2 asociovaná dědičná motorická a senzorická neuropatie typ 1"]},"uk":{"name":"Хвороба Шарко-Марі-Тута, тип 1, повязана з PMP2","synonyms":["PMP2-асоційована нейропатія Шарко-Марі-Тута типу 1","CMT1, повязаний з PMP2","Спадкова моторна та сенсорна нейропатія типу 1, повязана з PMP2"],"definition":"A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs."},"zh":{"name":"PMP2相关Charcot-Marie-Tooth病1型","synonyms":["PMP2相关1型遗传性运动和感觉神经病"],"definition":"是一种罕见的常染色体显性遗传性脱髓鞘性运动和感觉神经疾病，以进行性远端肌肉无力和萎缩、远端感觉障碍、患肢反射减弱或消失为特征，十岁到二十岁发病。运动神经传导速度中位数一般小于38米/秒。患者常有足部畸形。硬脑膜神经活检显示髓鞘纤维减少，髓鞘异常，洋葱球样病变。脂肪替代肌肉组织主要影响小腿前、外侧隔。"},"tr":{"name":"PMP2 -ilişkili Charcot-Marie-Tooth hastalığı tip 1","synonyms":["PMP2-ilişkili CMT1","PMP2-ilişkili Charcot-Marie-Tooth nöropati tip 1","PMP2 -ilişkili kalıtsal motor ve duyusal nöropati tip 1"]}},"xrefs":[{"source":"OMIM","code":"618279","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033135","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567891","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":140453,"name":"Autosomal dominant hereditary demyelinating motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PMP2","name":"peripheral myelin protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26828946[PMID]","hgnc":"9117","ensembl":"ENSG00000147588","omim":"170715","loci":["8q21.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"26828946[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26828946[PMID]"}],"phenotypes":null}