{"orpha":423894,"name":"Microcephaly-complex motor and sensory axonal neuropathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-423894/","orphanet_url":"https://www.orpha.net/en/disease/detail/423894","names":{"fr":{"name":"Syndrome de microcephalie-neuropathie sensitivo-motrice axonale complexe","definition":"Le syndrome de microcéphalie-neuropathie sensitivo-motrice axonale complexe est un sous-type extrêmement rare de neuropathie sensitivo-motrice héréditaire. Il se caractérise par une polyneuropathie sévère, symétrique, distale et progressant rapidement, et par une microcéphalie (qui peut être évidente <i>in utero</i>) sans atteinte de la cognition. Sur le plan clinique, il se manifeste par un retard du développement moteur, une hypotonie, une réduction ou une absence de réflexes tendineux profonds, une fonte et une faiblesse musculaires progressives, ainsi qu'une scoliose."},"de":{"name":"Mikrozephalie - komplexe motorische und sensorische axonale Neuropathie","definition":"Ein extrem seltener Subtyp der hereditären motorischen und sensorischen Neuropathie, der durch eine schwere, schnell fortschreitende, distale, symmetrische Polyneuropathie und Mikrozephalie (die sich bereits in utero zeigen kann) bei intakter Kognition gekennzeichnet ist. Klinisch zeigt sie sich mit verzögerter motorischer Entwicklung, Hypotonie, fehlenden oder reduzierten tiefen Sehnenreflexen, fortschreitendem Muskelschwund und -schwäche sowie Skoliose."},"es":{"name":"Síndrome de microcefalia-neuropatía axonal sensitivo-motora compleja","definition":"El síndrome de microcefalia-neuropatía axonal sensitivo-motora compleja es un subtipo de neuropatía sensitivo-motora hereditaria extremadamente infrecuente caracterizado por polineuropatía simétrica distal grave rápidamente progresiva y microcefalia (que puede ser evidente in utero) con una cognición intacta. Clínicamente se presenta con retraso del desarrollo motor, hipotonía, reflejos osteotendinosos ausentes o reducidos, atrofia y debilidad muscular progresivas y escoliosis."},"it":{"name":"Sindrome microcefalia-neuropatia assonale sensitivo-motoria complessa","definition":"La sindrome microcefalia-neuropatia assonale sensitivo-motoria complessa è un sottotipo molto raro di neuropatia sensitivo-motoria ereditaria. E' caratterizzata da polineuropatia simmetrica distale grave, a progressione rapida e microcefalia (che può essere evidente già in utero), associata a sviluppo cognitivo normale. La malattia esordisce con un ritardo dello sviluppo motorio, ipotonia, assenza o riduzione dei riflessi tendinei profondi, atrofia e debolezza muscolare progressiva e scoliosi."},"nl":{"name":"Microcefalie - complexe motorische en sensorische axonale neuropathie-syndroom","definition":"Microcefalie - complexe motorische en sensorische axonale neuropathie-syndroom is een uiterst zeldzaam subtype van erfelijke motorische en sensorische neuropathie en wordt gekarakteriseerd door ernstige, snel progressieve, distale, symmetrische polyneuropathie en microcefalie (die reeds in utero herkenbaar kan zijn) met intacte cognitie. Klinisch manifesteert de ziekte zich met een vertraagde motorische ontwikkeling, hypotonie, afwezige of verminderde diepe peesreflexen, progressieve spierzwakte en -atrofie, en scoliose."},"pt":{"name":"Síndrome de microcefalia-neuropatia axonal sensitivo-motora complexa"},"pl":{"name":"Małogłowie i złożona neuropatia aksonalna ruchowa i czuciowa"},"cs":{"name":"Syndrom zahrnující mikrocefalii a komplexní motorickou a senzorickou axonální neuropatii"},"uk":{"name":"Синдром мікроцефалії-комплексної моторної та сенсорної аксональної нейропатії","definition":"Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis."},"zh":{"name":"小头-复杂运动和感觉神经轴突性神经病综合征","definition":"小头畸形-复杂的运动和感觉轴突神经病综合征是一种极其罕见的遗传性运动和感觉神经病亚型，其特征是严重，进展迅速，远端，对称性多发性神经病和小头畸形（在子宫内即可见），并具有完整的认知。临床上表现为运动发育延迟，肌张力低下，腱反射缺乏或减少，进行性肌肉消瘦，肌无力和脊柱侧弯。"},"tr":{"name":"Mikrosefali-kompleks motor ve duyusal aksonal nöropati sendromu"}},"xrefs":[{"source":"OMIM","code":"620542","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018507","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706585","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":91024,"name":"Autosomal recessive axonal hereditary motor and sensory neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"VRK1","name":"VRK serine/threonine kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24126608[PMID]","hgnc":"12718","ensembl":"ENSG00000100749","omim":"602168","loci":["14q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24126608[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24126608[PMID]"}],"phenotypes":null}