{"orpha":35689,"name":"Primary lateral sclerosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult-onset PLS","Adult-onset primary lateral sclerosis","PLS"],"definition":"Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35689/","orphanet_url":"https://www.orpha.net/en/disease/detail/35689","names":{"fr":{"name":"Sclérose latérale primitive","synonyms":["PLS","PLS de l'adulte","SLP","SLP de l'adulte","Sclérose latérale primitive de l'adulte"],"definition":"Maladie idiopathique non familiale des neurones moteurs caractérisée par un dysfonctionnement lentement progressif du motoneurone supérieur entraînant une spasticité, une légère faiblesse des mouvements musculaires volontaires, une hyperréflexie et une perte de la production motrice de la parole."},"de":{"name":"Lateralsklerose, primäre"},"es":{"name":"Esclerosis lateral primaria","synonyms":["ELP","ELP de inicio en el adulto","Esclerosis lateral primaria de inicio en el adulto","PLS"],"definition":"Es una enfermedad de la motoneurona, idiopática y no familiar; caracterizada por una disfunción de la motoneurona superior de progresión lenta que conduce a la espasticidad, con debilidad en el movimiento muscular voluntario, hiperreflexia y pérdida de la producción motora del habla."},"it":{"name":"Sclerosi laterale primitiva","synonyms":["PLS","PLS a esordio nell'età adulta","Sclerosi laterale primitiva a esordio nell'età adulta"],"definition":"La sclerosi laterale primitiva (PLS) è una malattia idiopatica non ereditaria dei motoneuroni, caratterizzata da disfunzione dei motoneuroni superiori a progressione lenta, che causa spasticità, lieve debolezza nel movimento dei muscoli volontari, iperreflessia e perdita del linguaggio motorio."},"nl":{"name":"Primaire laterale sclerose","synonyms":["PLS","PLS met aanvang op volwassen leeftijd","Primaire laterale sclerose met aanvang op volwassen leeftijd"],"definition":"Primaire laterale sclerose (PLS) is een idiopathische, niet-familiale motorneuronziekte die gekarakteriseerd wordt door traag progressieve disfunctie van bovenste motorneuronen wat leidt tot spasticiteit, milde zwakte van vrijwillige spierbeweging, hyperreflexie, en verlies van motorische spraakproductie."},"pt":{"name":"Esclerose lateral primária","definition":"A esclerose lateral primária (ELP) é uma doença idiopática não familiar do neurónio motor, caracterizada por disfunção progressiva lenta do neurónio motor superior, levando à espasticidade, fraqueza ligeira nos movimentos musculares voluntários, hiperreflexia e perda da produção da fala motora."},"pl":{"name":"Pierwotne stwardnienie boczne","synonyms":["Pierwotne stwardnienie boczne o początku w wieku dorosłym","plS","plS o początku w wieku dorosłym"]},"cs":{"name":"Primární laterální skleróza","synonyms":["PLS","PLS s nástupem v dospělosti","Primární laterální skleróza s nástupem v dospělosti"]},"uk":{"name":"Первинний бічний склероз","synonyms":["PLS, що починається у дорослих","Первинний бічний склероз у дорослих","PLS"],"definition":"Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production."},"zh":{"name":"原发性侧索硬化症","synonyms":["成人发病型原发性侧索硬化"]},"tr":{"name":"Primer lateral skleroz","synonyms":["PLS","Erişkin başlangıçlı PLS","Erişkinlik başlangıçlı primer lateral skleroz"]}},"xrefs":[{"source":"OMIM","code":"611637","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8B60.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1686688462"},{"source":"MONDO","code":"0018155","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18155","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0154682","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10684","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036704","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":98503,"name":"Motor neuron disease","classifications":[181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]}],"children":[],"genes":[{"symbol":"SPG7","name":"SPG7 matrix AAA peptidase subunit, paraplegin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27123479[PMID]","hgnc":"11237","ensembl":"ENSG00000197912","omim":"602783","loci":["16q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-10-09","source":"39536141[PMID]_40388677[PMID]_25008395[PMID]_17404201[PMID]_1606479[PMID]","terms":[{"hpo":"HP:0002127","label":"Abnormal upper motor neuron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007034","label":"Generalized hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003444","label":"EMG: chronic denervation signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031993","label":"Hoffmann sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007772","label":"Impaired smooth pursuit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002371","label":"Loss of speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007199","label":"Progressive spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002464","label":"Spastic dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010549","label":"Weakness due to upper motor neuron dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010873","label":"Cervical spinal cord atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007002","label":"Motor axonal neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002366","label":"Abnormal lower motor neuron morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Excluded (0%)","criteria":null}]}}