{"orpha":431320,"name":"Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["SPOAN and SPOAN-related disorder"],"definition":"A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-431320/","orphanet_url":"https://www.orpha.net/en/disease/detail/431320","names":{"fr":{"name":"Syndrome paraplégie spastique-atrophie optique-neuropathie et apparentés","synonyms":["SPOAN et apparentés"],"definition":"Groupe de maladies neurodégénératives rares d'origine génétique, caractérisé par l'apparition, pendant la petite enfance ou l'enfance, d'une paraplégie spastique progressive (avec retard d'acquisition des principales étapes du développement, troubles de la marche, hyperréflexie et signe de Babinski), d'une atrophie optique (qui peut s'accompagner d'un nystagmus et d'une perte de vision) et d'une neuropathie périphérique progressive (avec atteinte sensorielle et faiblesse/atrophie musculaire distale des extrémités supérieures et inférieures). Les autres signes peuvent inclure des déformations des pieds, des défauts de la colonne vertébrale (scoliose, cyphose), des contractures articulaires, un réflexe de sursaut exagéré, des troubles de la parole, une hyperhidrose, des signes extra-pyramidaux et une déficience intellectuelle. Dans de très rares cas, un autre phénotype peut être observé, caractérisé par une atrophie optique et/ou une neuropathie moins importantes ou absentes."},"de":{"name":"Spastische Paraplegie-Optikusatrophie-Neuropathie und verwandte Krankheiten","synonyms":["SPOAN und SPOAN-verwandte Krankheiten"],"definition":"Eine Gruppe seltener, genetisch bedingter, neurodegenerativer Erkrankungen, die durch eine im Säuglings- bis Kindesalter einsetzende progressive spastische Paraplegie (mit verzögerten motorischen Meilensteinen, Gangstörungen, Hyperreflexie und extensorem Plantarreflex), Optikusatrophie (die mit Nystagmus und Sehverlust einhergehen kann) und progressive periphere Neuropathie (mit sensorischen Beeinträchtigungen und distaler Muskelschwäche/-atrophie in den oberen und unteren Extremitäten) gekennzeichnet sind. Weitere Anzeichen können Fußdeformitäten, Wirbelsäulendefekte (Skoliose, Kyphose), Gelenkkontrakturen, übertriebene Schreckreaktion, Sprachstörungen, Hyperhidrose, extrapyramidale Zeichen und Intelligenzminderung sein. In sehr seltenen Fällen kann ein abweichender Phänotyp mit weniger ausgeprägter oder fehlender Optikusatrophie und/oder Neuropathie beobachtet werden."},"es":{"name":"Paraplejía espástica-atrofia óptica-neuropatía y trastornos relacionados","synonyms":["SPOAN y trastornos asociados a SPOAN"],"definition":"Es un grupo de enfermedades neurodegenerativas, genéticas y poco frecuentes, caracterizadas por un inicio en la lactancia o la infancia de paraparesia espástica progresiva (con hitos motores retrasados, trastornos de la marcha, hiperreflexia y respuestas plantares extensoras), atrofia óptica (que puede estar acompañada de nistagmo y pérdida visual ) y neuropatía periférica progresiva (con deterioro sensitivo y debilidad/ atrofia de la musculatura distal de las extremidades superiores e inferiores). Los signos adicionales pueden incluir deformidades del pie, defectos vertebrales (escoliosis, cifosis), contracturas articulares, respuesta de sobresalto exagerada, trastornos del habla, hiperhidrosis, signos extrapiramidales y discapacidad intelectual. En casos muy raros, se puede observar un fenotipo variante con atrofia óptica y/o neuropatía óptica menos prominente o ausente."},"it":{"name":"Paraplegia spastica-atrofia ottica-neuropatia e malattia correlata a paraplegia spastica-atrofia ottica-neuropatia","synonyms":["SPOAN e malattia SPOAN-correlata"],"definition":"Si tratta di un gruppo di malattie neurodegenerative genetiche rare, che esordiscono in epoca neonatale o durante l'infanzia con paraplegia spastica progressiva (associata a ritardo dello sviluppo motorio, anomalie dell'andatura, iperreflessia e risposte plantari in estensione), atrofia ottica (che può associarsi a nistagmo e cecità) e neuropatia periferica progressiva (con deficit sensoriali e debolezza/atrofia dei muscoli distali degli arti). I pazienti possono presentare anche deformità dei piedi, difetti della colonna (scoliosi, cifosi), contratture articolari, sussulti anomali, disturbi del linguaggio, iperidrosi, segni extrapiramidali e disabilità intellettiva. Molto raramente, la malattia si associa a un fenotipo caratterizzato da atrofia ottica e/o neuropatia meno marcate o persino assenti."},"nl":{"name":"Spastische paraplegie - opticusatrofie - neuropathie en spastische paraplegie - opticusatrofie - neuropathie-gerelateerde stoornis","synonyms":["SPOAN- en SPOAN-gerelateerde stoornis"],"definition":"Een groep van zeldzame, genetische, neurodegeneratieve ziekten gekarakteriseerd door aanvang in de zuigelingen- tot kindertijd van progressieve spastische paraplegie (met vertraagde motorische mijlpalen, gangstoornissen, hyperreflexie en pathologische voetzoolreflexen), opticusatrofie (die vergezeld kan zijn van nystagmus en visuele handicap) en progressieve perifere neuropathie (met zintuiglijke stoornis en zwakte/atrofie van distale spieren in bovenste en onderste ledematen). Mogelijke bijkomende tekenen zijn onder meer voetmisvormingen, spinale defecten (scoliose, kyfose), gewrichtscontracturen, overdreven schrikreactie, spraakstoornissen, hyperhidrose, extrapiramidale tekenen en intellectuele achterstand. In zeer zeldzame gevallen kan een variant fenotype met minder duidelijke of afwezige opticusatrofie en/of -neuropathie waargenomen worden."},"pt":{"name":"Paraplegia espástica-atrofia óptica-neuropatia e doenças relacionados com paraplegia espástica-atrofia óptica-neuropatia","synonyms":["SPOAN e doenças associadas a SPOAN"]},"pl":{"name":"Paraplegia spastyczna-zanik nerwu wzrokowego-neuropatia i zaburzenia związane z paraplegią spastyczną-zanikiem nerwu wzrokowego i neuropatią","synonyms":["SPOAN i zaburzenia związane z SPOAN"]},"cs":{"name":"Spastická paraplegie, optická atrofie a neuropatie a porucha vázaná na tato onemocnění","synonyms":["SPOAN a SPOAN-vázaná porucha"]},"uk":{"name":"Спастична параплегія-атрофія-нейропатія зорового нерва та розлад, повязаний зі спастичною параплегією-атрофією-нейропатією зорового нерва","synonyms":["SPOAN та розлади, повязані з SPOAN"],"definition":"A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed."},"zh":{"name":"痉挛性截瘫-视神经萎缩神经病和痉挛性截瘫-视神经萎缩神经病相关疾病","synonyms":["SPOAN和SPOAN相关疾病"],"definition":"一组罕见的遗传性神经退行性疾病，其特征是婴儿期至儿童期起病的的进行性痉挛性截瘫（运动发育指标延迟，步态障碍，反射亢进和巴氏征阳性），视神经萎缩（可能伴有眼球震颤和视力丧失） ）和进行性周围神经病变（感觉障碍和上下肢远端肌肉无力/萎缩）。其他体征可能包括足畸形，脊柱畸形（脊柱侧弯，后凸畸形），关节挛缩，惊吓反应过度，语言障碍，多汗症，锥体外系体征和智力障碍。极少数病例会出现可能不合并视神经萎缩和/或神经病的表型。"},"tr":{"name":"Spastik parapleji-optik atrofi-nöropati ve spastik parapleji-optik atrofi-nöropati -ilişkili bozukluk","synonyms":["SPOAN ve SPOAN-ilişkili bozukluk"]}},"xrefs":[{"source":"MONDO","code":"18550","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5230629","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]},{"orpha":166,"name":"Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[{"orpha":320375,"name":"Autosomal recessive spastic paraplegia type 55","type":"Disease"},{"orpha":431329,"name":"Autosomal recessive spastic paraplegia type 57","type":"Disease"},{"orpha":468661,"name":"Autosomal recessive spastic paraplegia type 74","type":"Disease"},{"orpha":320406,"name":"Spastic paraplegia-optic atrophy-neuropathy syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}