{"orpha":320360,"name":"MT-ATP6-related mitochondrial spastic paraplegia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Maternally-inherited SPG","Maternally-inherited spastic paraplegia"],"definition":"A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320360/","orphanet_url":"https://www.orpha.net/en/disease/detail/320360","names":{"fr":{"name":"Paraplégie spastique mitochondriale associée à MT-AP6","synonyms":["Paraplégie spastique de transmission maternelle","SPG de transmission maternelle"],"definition":"Paraplégie spastique héréditaire complexe rare, d'origine génétique, caractérisée par l'apparition à l'âge adulte d'une faiblesse distale et d'une spasticité lentement progressives et bilatérales affectant principalement les membres inférieurs, qui deviennent douloureux, une hyperréflexie et une réduction de la sensibilité aux vibrations. Une neuropathie axonale est fréquemment observée à l'électromyographie et à l'étude de la conduction nerveuse."},"de":{"name":"Mitochondriale spastische Paraplegie, MT-ATP6-assoziierte","synonyms":["SPG, maternal-vererbte","Spastische Paraplegie, mütterlich-vererbte"]},"es":{"name":"Paraplejía espástica mitocondrial asociada a MT-ATP6","synonyms":["Paraplejía espástica de herencia materna","SPG de herencia materna"],"definition":"La paraplejía espástica mitocondrial asociada a MT-ATP6, es un trastorno genético poco frecuente, de paraplejía espástica hereditaria compleja caracterizada por un inicio en la edad adulta de espasticidad y debilidad distal bilateral, principalmente en las extremidades inferiores, lentamente progresiva. Está asociada con dolor en las extremidades inferiores, hiperreflexia y disminución de la sensibilidad vibratoria. Con frecuencia, se observa, neuropatía axonal en la electromiografía y en el estudio de conducción nerviosa."},"it":{"name":"Paraplegia spastica mitocondriale correlata a MT-ATP6","synonyms":["SPG a trasmissione materna"],"definition":"La paraplegia spastica mitocondriale correlata a MT-ATP6 è una paraplegia spastica ereditaria complessa genetica rara, che esordisce nell'età adulta con spasticità bilaterale a progressione lenta che interessa prevalentemente gli arti inferiori e debolezza distale, associate a dolore agli arti inferiori, iperreflessia e riduzione del senso della vibrazione. Spesso l'elettromiografia e l'esame della velocità di conduzione nervosa evidenziano una neuropatia assonale."},"nl":{"name":"MT-ATP6-gerelateerde mitochondriale spastische paraplegie","synonyms":["Maternaal overgeërfde SPG","Maternaal overgeërfde spastische paraplegie"],"definition":"MT-ATP6-gerelateerde mitochondriale spastische paraplegie is een zeldzame, genetische, complexe erfelijke spastische paraplegie die gekarakteriseerd wordt door aanvang in de volwassenheid van traag progressieve, bilaterale en distale zwakte van voornamelijk de onderste ledematen, geassocieerd met pijn, hyperreflexie, en verminderde vibratiezin in de onderste ledematen. Axonale neuropathie wordt frequent waargenomen bij elektromyografie en onderzoek van de zenuwgeleidingssnelheid."},"pt":{"name":"Paraplegia espástica motocondrial MT-ATP6-relacionada","synonyms":["Paraplegia espástica com hereditariedade materna"]},"pl":{"name":"Paraplegia spastyczna mitochondrialna zależna od MT-ATP6","synonyms":["SPG odziedziczona od matki"],"definition":"*Paraplegia spastyczna mitochondrialna zależna od MT-ATP6 jest rzadką, genetycznie uwarunkowaną, złożoną, dziedziczną paraplegią spastyczną, która charakteryzuje się wolno postępującą, obustronną spastycznością kończyn dolnych o początku w wieku dorosłym, z towarzyszącym ich dystalnym osłabieniem i bólem, wygórowaniem odruchów i osłabieniem czucia wibracji. W elektromiografii i badaniu przewodnictwa nerwowego często obserwuje się neuropatię aksonalną."},"cs":{"name":"Maternálně dědičná spastická paraplegie","synonyms":["Maternálně dědičná SPG"]},"uk":{"name":"Мітохондріальна спастична параплегія, повязана з MT-ATP6","synonyms":["Спастична параплегія, успадкована від матері","Успадкована по материнській лінії SPG"],"definition":"A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination."},"zh":{"name":"MT-ATP6基因相关的线粒体痉挛性截瘫","synonyms":["母系遗传痉挛性截瘫"],"definition":"MT-ATP6相关线粒体痉挛性截瘫是一种罕见的、遗传性的、复杂的遗传性痉挛性截瘫疾病，其特征是成年后起病缓慢进展，主要是双侧下肢痉挛和远端无力，伴有下肢疼痛、反射亢进和振动感减弱。轴突神经病经常在肌电图和神经传导检查中观察到。"},"tr":{"name":"MT-ATP6-ilişkili mitokondriyal spastik parapleji","synonyms":["Maternal-geçişli SPG","Maternal-geçişli spastik parapleji"]}},"xrefs":[{"source":"ICD-10","code":"G11.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B44.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017917","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755299","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102013,"name":"Complex hereditary spastic paraplegia","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MT-ATP6","name":"mitochondrially encoded ATP synthase membrane subunit 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20656066[PMID]","hgnc":"7414","ensembl":"ENSG00000198899","omim":"516060","loci":["mitochondria"]}],"genes_via_subtypes":[],"inheritance":["Mitochondrial inheritance"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"20656066[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20656066[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-29","source":"20656066[PMID]_23897027[PMID]","terms":[{"hpo":"HP:0002166","label":"Impaired vibration sensation in the lower limbs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007020","label":"Progressive spastic paraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Excluded (0%)","criteria":null}]}}