{"orpha":2590,"name":"Spinal muscular atrophy-progressive myoclonic epilepsy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary myoclonus-progressive distal muscular atrophy syndrome","Jankovic-Rivera syndrome","SMA-PME"],"definition":"Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2590/","orphanet_url":"https://www.orpha.net/en/disease/detail/2590","names":{"fr":{"name":"Syndrome d'amyotrophie spinale proximale-épilepsie myoclonique progressive","synonyms":["SMA-PME","Syndrome de Jankovic-Rivera"],"definition":"Le syndrome de myoclonie-atrophie musculaire distale est caractérisé par une myoclonie héréditaire et une atrophie musculaire distale progressive. Il a été décrit dans moins de 10 cas. Le traitement au clonazepam permet une disparition complète et durable de la myoclonie."},"de":{"name":"Spinale Muskelatrophie-progressive Myoklonusepilepsie-Syndrom","synonyms":["Hereditärer Myoklonus-progressive distale Muskelatrophie-Syndrom","Jankovic-Rivera-Syndrom"],"definition":"Dieses Syndrom ist charakterisiert durch erblichen Myoklonus und progrediente distale Muskelatrophie."},"es":{"name":"Síndrome de atrofia muscular espinal-epilepsia mioclónica progresiva","synonyms":["Síndrome de Jankovic-Rivera","Síndrome hereditario de mioclonías-atrofia muscular distal progresiva"],"definition":"El síndrome de atrofia muscular espinal-epilepsia mioclónica progresiva está caracterizado por mioclonías hereditarias y atrofia muscular distal progresiva. Hasta la fecha se han descrito menos de 10 casos en la literatura. El tratamiento con clonazepam produce una mejoría completa y duradera de la mioclonía."},"it":{"name":"Atrofia muscolare spinale - epilessia mioclonica progressiva","synonyms":["Sindrome di Jankovic-Rivera","Sindrome mioclonia ereditaria-atrofia muscolare distale progressiva"]},"nl":{"name":"Spinale musculaire atrofie - progressieve myoclonusepilepsie-syndroom","synonyms":["Erfelijke myoclonus - progressieve distale musculaire atrofie-syndroom","Erfelijke myoclonus - progressieve distale spieratrofie-syndroom","Spinale spieratrofie - progressieve myoclonische epilepsie-syndroom","Syndroom van Jankovic-Rivera"],"definition":"Spinale musculaire atrofie - progressieve myoclonusepilepsie-syndroom wordt gekenmerkt door hereditaire myoclonus en progressieve distale spieratrofie. Er werden minder dan 10 gevallen gerapporteerd. Behandeling met clonazepam resulteert in volledige en blijvende verbetering van myoclonus."},"pt":{"name":"Síndrome de atrofia muscular espinhal-epilepsia mioclónica progressiva","synonyms":["Síndrome Jankovi-Rivera","Síndrome de mioclonia hereditária-atrofia muscular distal progressiva"]},"pl":{"name":"Dziedziczny mioklonus - postępująca atrofia mięśni dystalnych","synonyms":["Zespół Jankovica i Rivera"]},"cs":{"name":"Spinální svalová atrofie s progresivní myoklonickou epilepsií","synonyms":["Syndrom zahrnující hereditární myoklonus a progresivní distální svalovou atrofii","Jankovicův-Riverův syndrom","Jankovic-Riverův syndrom"]},"uk":{"name":"Синдром прогресуючої спінальної мязової атрофії та міоклонічної епілепсії","synonyms":["Спадковий синдром міоклонусу - прогресуючої дистальної мязової атрофії","Синдром Янковича-Рівери","SMA-PME"],"definition":"Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus."},"zh":{"name":"脊髓性肌萎缩-进行性肌阵挛性癫痫综合征","synonyms":["遗传性肌阵挛-进行性远端肌肉萎缩综合征"]},"tr":{"name":"Spinal müsküler atrofi-ilerleyici miyoklonik epilepsi sendromu","synonyms":["SMA-PME","Jankovic-Rivera sendromu","Kalıtsal miyoklonus-ilerleyici distal kas atrofisi sendromu"]}},"xrefs":[{"source":"OMIM","code":"159950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008045","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537563","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834569","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3875","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":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ASAH1","name":"N-acylsphingosine amidohydrolase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22703880[PMID]","hgnc":"735","ensembl":"ENSG00000104763","omim":"613468","loci":["8p22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-02","source":"29595935[PMID]_30029679[PMID]","terms":[{"hpo":"HP:0001250","label":"Seizure","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002366","label":"Abnormal lower motor neuron morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002359","label":"Frequent falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002100","label":"Recurrent aspiration pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011147","label":"Typical absence seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025097","label":"Eyelid myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001757","label":"High-frequency sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032667","label":"Myoclonic status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Excluded (0%)","criteria":null}]}}