{"orpha":139578,"name":"Mutilating hereditary sensory neuropathy with spastic paraplegia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mutilating HSAN with spastic paraplegia"],"definition":"A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139578/","orphanet_url":"https://www.orpha.net/en/disease/detail/139578","names":{"fr":{"name":"Neuropathie héréditaire sensitive mutilante avec paraplégie spastique","synonyms":["NHSA mutilante avec paraplégie spastique"],"definition":"Maladie neurologique génétique rare caractérisée par l'apparition, pendant la petite enfance ou l'enfance, d'une neuropathie sensitive progressive en association avec une paraplégie spastique et une acropathie mutilante. Les patients présentent une spasticité des membres inférieurs et une perte sensitive sévère progressive évoluant vers des ulcérations chroniques affectant les membres supérieurs et inférieurs. Les examens électrophysiologiques mettent en évidence une neuropathie sensitive axonale, et la biopsie nerveuse révèle une axonopathie avec perte de fibres nerveuses myélinisées (indépendamment du diamètre) ainsi que des axons non myélinisés."},"de":{"name":"Mutilierende hereditäre sensorische Neuropathie mit spastischer Paraplegie","synonyms":["HSAN mit spastischer Paraplegie","Mutilierende HSAN mit spastischer Paraplegie"],"definition":"Eine seltene genetisch bedingte neurologische Erkrankung, die durch das Auftreten einer progressiven sensorischen Neuropathie im Säuglings- oder Kindesalter in Verbindung mit spastischer Paraplegie und einer mutilierenden Akropathie gekennzeichnet ist. Die Patienten leiden an Spastizität der unteren Gliedmaßen und einem progressiven schweren sensorischen Verlust, der zu chronischen Geschwüren in den oberen und unteren Gliedmaßen führt. Elektrophysiologische Untersuchungen deuten auf eine axonale sensorische Neuropathie hin, und eine Nervenbiopsie zeigt eine Axonopathie mit Verlust von myelinisierten Nervenfasern aller Durchmesser sowie von unmyelinisierten Axonen."},"es":{"name":"Neuropatía sensitiva hereditaria mutilante con paraplejía espástica","synonyms":["NSAH mutilante con paraplejía espástica"],"definition":"Es un trastorno neurológico poco frecuente de origen genético caracterizado por neuropatía sensitiva progresiva en asociación con paraplejía espástica y acropatía mutilante de inicio en la lactancia o la infancia. Los pacientes presentan espasticidad de las extremidades inferiores y grave pérdida sensitiva progresiva que conduce a ulceraciones crónicas tanto en las extremidades superiores como en las inferiores. Los estudios electrofisiológicos son compatibles con la neuropatía sensitiva axonal y la biopsia nerviosa muestra axonopatía con pérdida de fibras nerviosas mielinizadas de todos los diámetros, así como de axones amielínicos."},"it":{"name":"Neuropatia autonomica e sensoriale ereditaria - paraplegia spastica","synonyms":["HSAN con paraplegia spastica"]},"nl":{"name":"Mutilerende erfelijke sensorische neuropathie met spastische paraplegie","synonyms":["Mutilerende HSAN met spastische paraplegie"],"definition":"Een zeldzame, genetische neurologische aandoening, gekenmerkt door aanvang in de zuigelingen- tot kindertijd van progressieve sensorische neuropathie in associatie met spastische paraplegie en mutilerende acropathie. Patiënten vertonen spasticiteit van onderste ledematen en progressief ernstig sensorisch verlies dat leidt tot chronische ulceraties in zowel bovenste als onderste ledematen. Elektrofysiologische studies zijn consistent met axonale sensorische neuropathie, en zenuwbiopsie toont axonopathie met verlies van gemyeliniseerde zenuwvezels van alle diameters alsook van niet-gemyeliniseerde axonen."},"pt":{"name":"Neuropatia sensorial hereditária mutilante com paraplegia espástica","synonyms":["HSAN mutilante com paraplegia espástica"],"definition":"Doença neurológica genética rara caracterizada por início de neuropatia sensorial progressiva na infância, em associação com paraplegia espástica e acropatia mutilante. Os doentes apresentam espasticidade dos membros inferiores e perda sensorial progressiva grave, levando a ulcerações crónicas nos membros superiores e inferiores. Os estudos eletrofisiológicos são consistentes com neuropatia sensorial axonal e a biópsia de nervo demostra axonopatia com perda de fibras nervosas mielinizadas de todos os diâmetros, bem como de axónios não mielinizados."},"pl":{"name":"Dziedziczna neuropatia czuciowa i autonomiczna ze spastycznym porażeniem poprzecznym","synonyms":["HSAN ze spastycznym porażeniem poprzecznym"],"definition":"Rzadkie genetycznie uwarunkowane zaburzenie neurologiczne charakteryzujące się postępującą neuropatią czuciową o początku w wieku niemowlęcym lub dziecięcym, w połączeniu z paraplegią spastyczną i okaleczającą akropatią. U pacjentów występuje spastyczność kończyn dolnych i postępująca, ciężka utrata czucia prowadząca do przewlekłych owrzodzeń zarówno kończyn górnych, jak i dolnych. Badania elektrofizjologiczne wskazują na aksonalną neuropatię czuciową, a biopsja nerwu wykazuje aksonopatię z utratą zmielinizowanych włókien nerwowych o wszystkich średnicach, a także aksonów niezmielinizowanych."},"cs":{"name":"Hereditární senzorická a autonomní neuropatie se spastickou paraplegií","synonyms":["HSAN se spastickou paraplegií"]},"uk":{"name":"Інівалідизуюча спадкова сенсорна нейропатія зі спастичною параплегією","synonyms":["Каліцтво HSAN зі спастичною параплегією"],"definition":"A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons."},"zh":{"name":"残废性遗传性感觉神经病变伴痉挛性截瘫","synonyms":["残毁性HSAN伴痉挛性截瘫"],"definition":"该综合征的特征与轴索性感觉和自主神经病伴痉挛性截瘫相关。"},"tr":{"name":"Spastik parapleji ile kalıtsal, kopmaya yol açan duyusal nöropati","synonyms":["Spastik parapleji ile seyreden mutilating HSAN"]}},"xrefs":[{"source":"OMIM","code":"256840","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009748","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9748","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679610","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":140477,"name":"Autosomal recessive hereditary sensory and autonomic neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CCT5","name":"chaperonin containing TCP1 subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16399879[PMID]","hgnc":"1618","ensembl":"ENSG00000150753","omim":"610150","loci":["5p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"218673[PMID]_7922454[PMID]_16333315[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16333315[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-12","source":"16333315[PMID]_218673[PMID]_7922454[PMID]","terms":[{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003409","label":"Distal sensory impairment of all modalities","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:0007328","label":"Impaired pain sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001258","label":"Spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002143","label":"Abnormality of the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002169","label":"Clonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006121","label":"Acral ulceration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001886","label":"Foot osteomyelitis","frequency":"Occasional (29-5%)","criteria":null}]}}