{"orpha":513436,"name":"Autosomal recessive spastic paraplegia type 78","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG78"],"definition":"A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-513436/","orphanet_url":"https://www.orpha.net/en/disease/detail/513436","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 78","synonyms":["SPG78"],"definition":"Paraplégie spastique complexe autosomique récessive rare, caractérisée par une spasticité et une faiblesse progressives survenant le plus souvent à l'âge adulte et affectant principalement les membres inférieurs, une neuropathie axonale motrice et sensorielle et des symptômes d'atteinte cérébelleuse tels qu'une ataxie, une dysarthrie et des anomalies oculomotrices. Des degrés variables de troubles cognitifs peuvent également être présents. Une atteinte subtile du système extrapyramidal et une paralysie supranucléaire du regard ont été rapportées dans certains cas. L'imagerie cérébrale met en évidence une atrophie cérébrale et cérébelleuse et parfois des anomalies du corps calleux ou des ganglions de la base."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 78","synonyms":["SPG78"],"definition":"Eine autosomal-rezessive komplexe spastische Paraplegie, die durch eine meist im Erwachsenenalter auftretende progressive Spastik und Schwäche, die vorwiegend die unteren Gliedmaßen betrifft, eine axonale motorische und sensorische Neuropathie sowie zerebelläre Symptome wie Ataxie, Dysarthrie und okulomotorische Anomalien gekennzeichnet ist. Auch kognitive Beeinträchtigungen unterschiedlichen Ausmaßes können vorhanden sein. In einigen Fällen wurde über eine subtile extrapyramidale Beteiligung und eine supranukleäre Blicklähmung berichtet. Die Bildgebung des Gehirns zeigt eine zerebrale und zerebellare Atrophie und manchmal Anomalien des Corpus Callosum oder der Basalganglien."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 78","synonyms":["SPG78"],"definition":"Es una paraplejía espástica hereditaria autosómica recesiva compleja poco frecuente caracterizada por espasticidad progresiva y debilidad afectando principalmente a las extremidades inferiores, neuropatía axonal sensitivo-motora y síntomas cerebelosos tales como ataxia, disartria y anomalías oculomotoras, principalmente de inicio en el adulto. Los pacientes también pueden presentar un grado variable de deterioro cognitivo. En algunos casos, se ha descrito una leve afectación extrapiramidal y parálisis supranuclear de la mirada. Los hallazgos de la neuroimagen incluyen atrofia cerebral y cerebelosa y, en ocasiones, anomalías del cuerpo calloso o de los ganglios basales."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 78","synonyms":["SPG78"],"definition":"Si tratta di una paraplegia spastica complessa rara, a trasmissione autosomica recessiva, che esordisce per lo più nell'età adulta, con spasticità progressiva e debolezza che interessa prevalentemente gli arti inferiori, neuropatia sensitivo-motoria assonale e sintomi cerebellari (atassia, disartria e anomalie oculomotorie). I pazienti possono presentare anche un deficit cognitivo di grado variabile. Sono stati descritti pazienti con un modesto interessamento extrapiramidale e con oftalmoplegia sopranucleare. Le neuroimmagini mostrano atrofia cerebrale e cerebellare e, occasionalmente, anomalie del corpo calloso o dei gangli basali."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 78","synonyms":["SPG78"],"definition":"Een zeldzame autosomaal recessieve complexe spastische paraplegie, gekarakteriseerd door overwegend in de volwassenheid aanvangende progressieve spasticiteit en zwakte die vooral onderste ledematen treffen, axonale motorische en sensorische neuropathie, en cerebellaire symptomen zoals ataxie, dysartrie, en oculomotorische afwijkingen. Variabele gradaties van cognitieve functiestoornis kunnen eveneens aanwezig zijn. In sommige gevallen werden subtiele extrapiramidale betrokkenheid en supranucleaire blikparese gerapporteerd. Kenmerken bij beeldvorming van hersenen zijn onder meer cerebrale en cerebellaire atrofie, en soms afwijkingen van corpus callosum of basale ganglia."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 78"},"pl":{"name":"Autosomalna recesywna spastyczna paraplegia typu 78","synonyms":["SPG78"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 78","synonyms":["SPG78"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 78","synonyms":["SPG78"],"definition":"A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia."},"zh":{"name":"78型常染色体隐性痉挛性截瘫","synonyms":["78型痉挛性截瘫"],"definition":"一种罕见的常染色体隐性复杂痉挛性截瘫，其特点是多为成人发病，主要影响下肢的进行性痉挛和无力，轴突运动和感觉神经病变，小脑症状如共济失调、构音障碍和眼球运动异常。也可出现不同程度的认知障碍。部分病例有细微的锥体外系受累和核上凝视麻痹的报道。脑影像学特征包括大脑和小脑萎缩，有时胼胝体或基底节异常。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 78","synonyms":["SPG78"]}},"xrefs":[{"source":"OMIM","code":"617225","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014975","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567893","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":100981,"name":"Autosomal recessive complex spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ATP13A2","name":"ATPase cation transporting 13A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28137957[PMID]_29112700[PMID]_27217339[PMID]","hgnc":"30213","ensembl":"ENSG00000159363","omim":"610513","loci":["1p36.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"28137957[PMID]_29112700[PMID]_27217339[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29112700[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-08","source":"27217339[PMID]_28137957[PMID]_29112700[PMID]_29112699[PMID]_27165006[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003482","label":"EMG: axonal abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002478","label":"Progressive spastic quadriplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000605","label":"Supranuclear gaze palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000317","label":"Facial myokymia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007153","label":"Progressive extrapyramidal movement disorder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Excluded (0%)","criteria":null}]}}