{"orpha":320375,"name":"Autosomal recessive spastic paraplegia type 55","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG55"],"definition":"Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the <i>C12ORF65</i> gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320375/","orphanet_url":"https://www.orpha.net/en/disease/detail/320375","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 55","synonyms":["SPG55"],"definition":"La paraplégie spastique autosomique récessive type 55 (SPG 55) est une forme rare et complexe de paraplégie spastique héréditaire. Elle se caractérise par l'apparition pendant l'enfance d'une paraplégie spastique progressive, associée à une atrophie optique (avec réduction de l'acuité visuelle et scotome central), une ophtalmoplégie, une réduction de la force et de la dextérité des extrémités supérieures, une atrophie musculaire des extrémités inférieures et une neuropathie sensorimotrice."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 55","synonyms":["SPG55"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 55 (SPG55) ist eine seltene, komplexe Form der hereditären spastischen Paraplegie, die durch eine progressive spastische Paraplegie mit Beginn im Kindesalter gekennzeichnet ist. Es kommt zu einer Sehnervatrophie (mit reduzierter visueller Schärfe und zentralem Skotom), Ophtalmoplegie, einer reduzierten Kraft und Feinmotorik der oberen Extremität, muskulärer Atrophie in den unteren Extremitäten und sensomotorischer Neuropathie."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 55","synonyms":["SPG55"],"definition":"Es un tipo poco frecuente y complejo de paraplejía espástica hereditaria caracterizado por paraplejía espástica progresiva asociada a atrofia óptica de inicio en la infancia (con agudeza visual reducida y escotoma central), oftalmoplejía, disminución de la destreza y fuerza en las extremidades superiores, atrofia muscular en las extremidades inferiores y neuropatía sensitivo-motora. La enfermedad está causada por mutaciones en el gen <i>C12ORF65</i> (12q24.31) que codifica para el supuesto factor de liberación mitocondrial de la cadena peptídica C12orf65."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 55","synonyms":["SPG55"],"definition":"La paraplegia spastica autosomica recessiva tipo 55 (SPG 55) è una paraplegia spastica ereditaria complessa rara, caratterizzata da paraplegia spastica progressiva ad esordio infantile, associata ad atrofia ottica (con riduzione dell'acuità visiva e scotoma centrale), oftalmoplegia, riduzione della forza e della destrezza delle estremità superiori, atrofia muscolare alle estremità inferiori e neuropatia sensitivo-motoria."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 55","synonyms":["SPG55"],"definition":"Autosomaal recessieve spastische paraplegie type 55 (SPG55) is een zeldzaam, complex type van erfelijke spastische paraplegie die wordt gekarakteriseerd door een in de kindertijd aanvangende progressieve spastische paraplegie geassocieerd met opticusatrofie (met verminderde visus en centraal scotoom), oftalmoplegie, verminderde kracht en behendigheid van de bovenste ledematen, musculaire atrofie in de onderste ledematen, en sensomotorische neuropathie. SPG55 wordt veroorzaakt door mutaties in het gen <i>C12ORF65</i> (12q24.31), dat codeert voor vermoedelijke mitochondriale peptideketen-release factor C12orf65."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 55"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 55","synonyms":["SPG55"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 55","synonyms":["SPG55"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 55","synonyms":["SPG55"],"definition":"Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the <i>C12ORF65</i> gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫55型","synonyms":["SPG55"],"definition":"常染色体隐性痉挛性截瘫55型(SPG 55)是一种罕见的复杂类型的遗传性痉挛性截瘫，其特征为儿童期发病的进行性痉挛性截瘫，伴有视神经萎缩(视力下降和中央暗点)、眼肌麻痹、上肢力量和灵活性下降、下肢肌肉萎缩和感觉运动神经病。SPG55是由线粒体C12ORF65基因(12q24.31)突变引起的，它编码可能的肽链释放因子。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 55","synonyms":["SPG55"]}},"xrefs":[{"source":"OMIM","code":"615035","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014020","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3539506","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17474","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":497623,"name":"C12ORF65-related combined oxidative phosphorylation defect","classifications":[150,156,181,189]},{"orpha":431320,"name":"Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder","classifications":[156,181,189]}],"children":[],"genes":[{"symbol":"MTRFR","name":"mitochondrial translation release factor in rescue","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23188110[PMID]","hgnc":"26784","ensembl":"ENSG00000130921","omim":"613541","loci":["12q24.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24080142[PMID]_24424123[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"24080142[PMID]_24424123[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-05-16","source":"23188110[PMID]_24080142[PMID]_24424123[PMID]","terms":[{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003448","label":"Decreased sensory nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007042","label":"Focal white matter lesions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003383","label":"Onion bulb formation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001138","label":"Optic neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008963","label":"Tibialis muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}