{"orpha":357043,"name":"Amyotrophic lateral sclerosis type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALS4","Distal hereditary motor neuropathy with upper motor neuron signs","dHMN with upper motor neuron signs"],"definition":"A rare genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357043/","orphanet_url":"https://www.orpha.net/en/disease/detail/357043","names":{"fr":{"name":"Sclérose latérale amyotrophique type 4","synonyms":["ALS4","Neuropathie motrice distale avec atteinte des motoneurones supérieurs","SLA4","dHMN avec atteinte des motoneurones supérieurs","dHMN avec atteinte des neurones moteurs supérieurs"],"definition":"Maladie génétique rare du motoneurone caractérisée par l'apparition, à la fin de l'enfance ou à l'adolescence, d'une faiblesse et d'une atrophie musculaires sévères et lentement progressives des muscles de la partie distale des membres, associées à des signes d'atteinte pyramidale, à une sensibilité normale et à une absence d'atteinte bulbaire, entraînant la dégénérescence des motoneurones du cerveau et de la moelle épinière."},"de":{"name":"Amyotrophe Lateralsklerose Typ 4","synonyms":["ALS4","Neuropathie, distale hereditäre motorische, mit oberen Motoneuron-Signalen","dHMN mit oberen Motoneuron-Signalen"],"definition":"Eine genetisch bedingte Motoneuronenerkrankung, bei der in der späten Kindheit oder Jugend eine langsam fortschreitende, schwere Muskelschwäche und ein Muskelschwund der distalen Gliedmaßen auftreten, die mit pyramidalen Anzeichen, normaler Empfindung und dem Fehlen einer bulbären Beteiligung einhergehen und zur Degeneration der Motoneuronen im Gehirn und Rückenmark führen."},"es":{"name":"Esclerosis lateral amiotrófica tipo 4","synonyms":["ALS4","Neuropatía motora distal hereditaria con signos de la motoneurona superior","dHMN con signos de la motoneurona superior"],"definition":"Es una enfermedad de las neuronas motoras, de origen genético y poco frecuente, caracterizada por debilidad y atrofia muscular distal de las extremidades, grave y de progresión lenta, que comienza en la infancia tardía o en la adolescencia, asociada a signos piramidales, sensibilidad normal y ausencia de afectación bulbar, que conduce a la degeneración de las neuronas motoras del cerebro y la médula espinal."},"it":{"name":"Sclerosi laterale amiotrofica tipo 4","synonyms":["ALS4","Neuropatia motoria ereditaria distale con segni del motoneurone superiore","dHMN con segni del motoneurone superiore"],"definition":"È una pneumopatia interstiziale genetica rara, caratterizzata dall'accumulo di lipoproteine negli alveoli polmonari, che esita nella malattia polmonare restrittiva e nell'insufficienza respiratoria. I pazienti presentano dispnea, tachipnea, tosse, ritardo della crescita e ippocratismo digitale. Sono stati descritti pazienti con malattia epatica (epatomegalia, steatosi, fibrosi o cirrosi). È una malattia genetica rara dei motoneuroni, che esordisce durante la tarda infanzia o l'adolescenza con debolezza e atrofia grave, a progressione lenta, dei muscoli distali degli arti, associate a segni piramidali e sensibilità normale, in assenza di un interessamento bulbare. La malattia causa la degenerazione dei motoneuroni nel cervello e nel midollo spinale."},"nl":{"name":"Amyotrofische laterale sclerose type 4","synonyms":["ALS4","Amyotrofe laterale sclerose type 4","Distale hereditaire motorneuropathie met tekenen van hogere motorneuronen","dHMN met tekenen van de hogere motorneuronen"],"definition":"Een zeldzame genetische motorneuronziekte, gekenmerkt door aanvang in de late kindertijd of adolescentie van traag progressieve, ernstige zwakte en atrofie van spieren van distale ledematen, geassocieerd met piramidale verschijnselen, normale zintuiglijke waarneming, en afwezigheid van bulbaire betrokkenheid, met degeneratie van motorneuronen in de hersenen en het ruggenmerg tot gevolg."},"pt":{"name":"Esclerose lateral amiotrófica, tipo 4"},"pl":{"name":"Stwardnienie zanikowe boczne typu 4","synonyms":["ALS4","dHMN z objawami górnego neuronu ruchowego","Dystalna dziedziczna neuropatia ruchowa z objawami górnego neuronu ruchowego"]},"cs":{"name":"Amyotrofická laterální skleróza, typ 4","synonyms":["ALS4","Distální hereditární motorická neuropatie s příznaky léze horního motoneuronu","dHMN s příznaky léze horního motoneuronu"]},"uk":{"name":"Бічний аміотрофічний склероз, тип 4","synonyms":["ALS4","dHMN з ознаками верхнього моторного нейрона","Дистальна спадкова моторна нейропатія з ознаками верхніх моторних нейронів"],"definition":"A rare, genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord."},"zh":{"name":"肌萎缩性脊髓侧索硬化症4型","synonyms":["远端遗传性运动神经病伴有上运动神经元体征"],"definition":"本病是一种罕见的遗传性运动神经元病，其特征是儿童或青少年缓慢进展、严重的四肢远端肌无力和消瘦，并伴有锥体束征、感觉正常和没有延髓受累，最终导致大脑和脊髓运动神经元退化。"},"tr":{"name":"Amyotrofik lateral skleroz tip 4","synonyms":["ALS4","Üst motor nöron belirtileri ile seyreden dHMN","Üst motor nöron belirtileri ile seyreden distal kalıtsal motor nöropati"]}},"xrefs":[{"source":"OMIM","code":"602433","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011223","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566550","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865409","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98505,"name":"Genetic motor neuron disease","classifications":[156,181]},{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"SETX","name":"senataxin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15106121[PMID]_15478096[PMID]","hgnc":"445","ensembl":"ENSG00000107290","omim":"608465","loci":["9q34.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":70.0,"area":"Worldwide","status":"Validated","source":"9497266[PMID]_12023320[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9497266[PMID]_12023320[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-07-11","source":"15106121[PMID]","terms":[{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Occasional (29-5%)","criteria":null}]}}