{"orpha":468661,"name":"Autosomal recessive spastic paraplegia type 74","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG74"],"definition":"Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-468661/","orphanet_url":"https://www.orpha.net/en/disease/detail/468661","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 74","synonyms":["SPG74"],"definition":"Syndrome paraplégie spastique-atrophie optique-neuropathie et apparentés like (SPOAN-like) rare d'origine génétique, caractérisé par une paraparésie spastique légère à modérée apparaissant dès l'enfance et se manifestant par un trouble de la marche qui évolue très lentement jusqu'à la fin de l'âge adulte, un réflexe rotulien hyperactif et un signe de Babinski positif des deux côtés, en association avec une atrophie optique et des symptômes typiques de neuropathie périphérique, y compris des réflexes réduits ou absents au niveau de la cheville, une atrophie des membres inférieurs et une déficience sensorielle distale. Une baisse de l'acuité visuelle et des pieds creux sont fréquemment rapportés."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 74","synonyms":["SPG74"]},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 74","synonyms":["SPG74"],"definition":"Es un trastorno similar a SPOAN (paraplejía espástica - atrofia óptica - neuropatía), genético y poco frecuente, caracterizado por el inicio en la infancia de paraplejía espástica de leve a moderada, que se manifiesta con deterioro de la marcha que progresa lentamente hasta la edad adulta tardía, reflejo patelar hiperactivo y respuesta plantar extensora bilateral, en asociación con atrofia óptica y síntomas típicos de neuropatía periférica, que incluyen reflejos aquíleos reducidos o ausentes, atrofia de las extremidades inferiores y deterioro sensitivo distal. Con frecuencia se describe disminución de la agudeza visual y pie cavo."},"it":{"name":"Paraplegia spastica autosomica recessiva tipo 74","definition":"La paraplegia spastica autosomica recessiva tipo 74 è una sindrome genetica rara da paraplegia spastica, atrofia ottica e neuropatia (simil-SPOAN), che esordisce nell'infanzia con paraparesi spastica lieve-moderata, che si manifesta con difficoltà alla deambulazione che progrediscono lentamente durante l'età adulta, riflessi patellari iperattivi e risposta plantare in estensione bilaterale, associati ad atrofia ottica e ai segni clinici caratteristici della neuropatia periferica, compresa la riduzione o l'assenza dei riflessi delle caviglie, l'atrofia degli arti inferiori e i deficit sensoriali distali. Spesso i pazienti presentano una riduzione dell'acuità visiva e piede cavo."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 74","synonyms":["SPG74"],"definition":"Autosomaal recessieve spastische paraplegie type 74 is een zeldzame, genetische, spastische paraplegie - opticusatrofie - neuropathie-gerelateerde (SPOAN-achtige) stoornis, en wordt gekarakteriseerd door aanvang in de kindertijd van milde tot matige spastische paraparese die zich manifesteert met aftakeling van de gang met een zeer trage progressie tot in de late volwassenheid, hyperactieve kniepeesreflex en bilaterale voetzoolreflexen in extensie, geassocieerd met opticusatrofie en typische symptomen van perifere neuropathie, waaronder verminderde of afwezige enkelreflexen, atrofie van de onderste ledematen en distale zintuiglijke stoornis. Verminderde visus en pes cavus worden vaak gerapporteerd."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 74"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 74","synonyms":["SPG74"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 74","synonyms":["SPG74"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 74","synonyms":["SPG74"],"definition":"Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported."},"zh":{"name":"常染色体显性痉挛性截瘫74型","synonyms":["SPG74"],"definition":"74型常染色体隐性痉挛性截瘫是一种罕见的遗传性痉挛性截瘫-视神经萎缩-神经病变相关(SPOAN样)疾病，其特点是儿童期开始出现轻度至中度痉挛性截瘫，表现为步态障碍，到成年偏后期进展非常缓慢。膝反射亢进和双侧伸展的脚掌反应，伴有视神经萎缩和典型的周围神经病变，包括踝反射减弱或消失、下肢萎缩和远端感觉障碍。常有视觉敏锐度减退和高弓足的报道。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 74","synonyms":["SPG74"]}},"xrefs":[{"source":"OMIM","code":"616451","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014644","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568837","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":431320,"name":"Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder","classifications":[156,181,189]}],"children":[],"genes":[{"symbol":"IBA57","name":"iron-sulfur cluster assembly factor IBA57","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25609768[PMID]","hgnc":"27302","ensembl":"ENSG00000181873","omim":"615316","loci":["1q42.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"25609768[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25609768[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-29","source":"25609768[PMID]","terms":[{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009072","label":"Decreased Achilles reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011923","label":"Decreased activity of mitochondrial complex I","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008314","label":"Decreased activity of mitochondrial complex II","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007067","label":"Distal peripheral sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003445","label":"EMG: neuropathic changes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007083","label":"Hyperactive patellar reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very rare (<4-1%)","criteria":null}]}}