{"orpha":171617,"name":"Autosomal dominant spastic paraplegia type 38","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG38"],"definition":"A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, <i>pes cavus</i>, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171617/","orphanet_url":"https://www.orpha.net/en/disease/detail/171617","names":{"fr":{"name":"Paraplégie spastique autosomique dominante type 38","synonyms":["SPG38"],"definition":"Paraplégie spastique héréditaire complexe, caractérisée par une spasticité légère à sévère des membres inférieurs, une hyperréflexie, un signe de Babinski, une réduction du sens vibratoire, des pieds creux, une fonte musculaire significative et une faiblesse des muscles de petite taille de la main. Des cas d'épilepsie temporale et de déficience cognitive ont également été rapportés."},"de":{"name":"Spastische Paraplegie, autosomal-dominante, Typ 38","synonyms":["SPG38"],"definition":"Eine komplexe hereditäre spastische Paraplegie, die durch eine leichte bis schwere Spastik der unteren Gliedmaßen, Hyperreflexie, extensorische Plantarreflexe, beeinträchtigtes Vibrationsempfinden, <i>Pes cavus</i> und eine erhebliche Schwächung der kleinen Handmuskeln gekennzeichnet ist. Es wurde auch über Schläfenlappenepilepsie und kognitive Funktionsstörungen berichtet."},"es":{"name":"Paraplejía espástica autosómica dominante tipo 38","definition":"Es una paraplejía espástica hereditaria compleja caracterizada por espasticidad de leve a grave de las extremidades inferiores, hiperreflexia, respuestas plantares extensoras, alteración de la sensibilidad vibratoria, <i>pes cavus</i>, y marcada atrofia y debilidad de los músculos pequeños de la mano. También se ha descrito epilepsia del lóbulo temporal y disfunción cognitiva."},"it":{"name":"Paraplegia spastica autosomica dominante tipo 38","synonyms":["SPG38"],"definition":"Si tratta di una paraplegia spastica ereditaria complessa, caratterizzata da spasticità agli arti inferiori lieve-grave, iperreflessia, risposte plantari in estensione, compromissione del senso della vibrazione, piede cavo e marcata atrofia e debolezza dei piccoli muscoli delle mani. I pazienti possono presentare anche epilessia del lobo temporale e disfunzione cognitiva."},"nl":{"name":"Autosomaal dominante spastische paraplegie type 38","synonyms":["SPG38"],"definition":"Een complexe, hereditaire spastische paraplegie, gekenmerkt door milde tot ernstige spasticiteit van onderste ledematen, hyperreflexie, pathologische voetzoolreflexen, verstoorde vibratiezin, <i>pes cavus</i>, en significante atrofie en zwakte van kleine handspieren. Temporaalkwabepilepsie en cognitieve disfunctie werden ook reeds gerapporteerd."},"pt":{"name":"Paraplegia espástica autossómica dominante tipo 38","synonyms":["SPG38"],"definition":"Paraplegia espástica hereditária complexa caracterizada por espasticidade ligeira a grave dos membros inferiores, hiperreflexia, respostas plantares extensoras, sensação de vibração comprometida, pes cavus e perda de peso e fraqueza significativas dos pequenos músculos da mão. Foram descritas situações de epilepsia do lobo temporal e disfunção cognitiva."},"pl":{"name":"Autosomalna dominująca paraplegia spastyczna typu 38","synonyms":["SPG38"]},"cs":{"name":"Autozomálně dominantní spastická paraplegie, typ 38","synonyms":["SPG38"]},"uk":{"name":"Аутосомно-домінантна спастична параплегія, тип 38","synonyms":["SPG38"],"definition":"A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, <i>pes cavus</i>, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported."},"zh":{"name":"常染色体显性遗传痉挛性截瘫38型","synonyms":["SPG38"],"definition":"常染色体显性遗传性痉挛性截瘫38型一种复杂的遗传性痉挛性截瘫，其主要临床表现为不同程度的下肢痉挛、反射亢进、跖反射伸性、内翻足、手部肌肉明显萎缩和肌无力，还可出现振动觉障碍、颞叶癫痫和认知障碍。"},"tr":{"name":"Otozomal dominant spastik parapleji tip 38","synonyms":["SPG38"]}},"xrefs":[{"source":"OMIM","code":"612335","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1487713774"},{"source":"MONDO","code":"0012867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2676732","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100979,"name":"Autosomal dominant complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SPG38","name":"spastic paraplegia 38 (autosomal dominant, Silver syndrome)","gene_type":"Disorder-associated locus","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"33485","ensembl":null,"omim":null,"loci":["4p16-p15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"18401025[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18401025[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-25","source":"18401025[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002314","label":"Degeneration of the lateral corticospinal tracts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002064","label":"Spastic gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003393","label":"Thenar muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009031","label":"Amyotrophy of ankle musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003426","label":"First dorsal interossei muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003392","label":"First dorsal interossei muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100561","label":"Spinal cord lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003427","label":"Thenar muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006892","label":"Frontotemporal cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012898","label":"Abnormal lower-limb motor evoked potentials","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002921","label":"Abnormality of the cerebrospinal fluid","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0009049","label":"Peroneal muscle atrophy","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Excluded (0%)","criteria":null}]}}