{"orpha":320401,"name":"Autosomal recessive spastic paraplegia type 44","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SPG44"],"definition":"Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the <i>GJC2</i> gene (1q41-q42) encoding the gap junction gamma-2 protein.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-320401/","orphanet_url":"https://www.orpha.net/en/disease/detail/320401","names":{"fr":{"name":"Paraplégie spastique autosomique récessive type 44","synonyms":["SPG44"],"definition":"Forme très rare et complexe de paraplégie spastique héréditaire caractérisée par une paraplégie spastique à début tardif, lentement progressive, associée à une légère ataxie et à une dysarthrie, à une atteinte des membres supérieurs (perte de la dextérité des doigts, dysmétrie) et à des troubles cognitifs légers, en l'absence de nystagmus. Une leucodystrophie hypomyélinisante et un corps calleux fin sont observés dans tous les cas, le développement psychomoteur étant normal ou proche de la normale. La paraplégie spastique autosomique récessive type&nbsp;44 (SPG44) est causée par des mutations du gène <i>GJC2</i> (1q41-q42) codant pour la protéine gap junction gamma-2."},"de":{"name":"Spastische Paraplegie, autosomal-rezessive, Typ 44","synonyms":["SPG44"],"definition":"Die autosomal-rezessive spastische Paraplegie Typ 44 (SPG44) ist eine sehr seltene, komplexe Form der hereditären spastischen Paraplegie, die durch eine sehr späte, langsam fortschreitende, spastische Paraplegie gekennzeichnet ist. Weiterhin kommt es zu einer leichten Ataxie und Dysarthrie, einer Beteiligung der oberen Extremität (in Form eines Verlusts der Feinmotorik, Dysmetrie) und zu einer milden kognitiven Beeinträchtigung. Ein Nystagmus tritt nicht auf. Eine hypomyelinisierende Leukodystrophie und ein dünnes Corpus Callosum wurde bei allen Patienten beobachtet, wobei die psychomotorische Entwicklung normal bzw. annähernd normal ist. SPG44 entsteht durch Mutationen im <i>GJC2</i>-Gen (1q41-q42), welches das Gap Junction Gamma-2-Protein kodiert. SPG44 entsteht durch Mutationen im <i>GJC2</i>-Gen (1q41-q42), welches das Gap Junction Gamma-2-Protein kodiert."},"es":{"name":"Paraplejía espástica autosómica recesiva tipo 44","synonyms":["SPG44"],"definition":"Es una forma muy poco frecuente y compleja de paraplejía espástica hereditaria caracterizada por el inicio tardío de paraplejía espástica de progresión lenta asociada a leve ataxia y disartria, afectación de las extremidades superiores (p. ej., pérdida de la motricidad fina de los dedos, dismetría) y leves alteraciones cognitivas, en ausencia de nistagmo. En todos los casos se observa leucodistrofia hipomielinizante y adelgazamiento del cuerpo calloso, mientras que el desarrollo psicomotor es normal o prácticamente normal. La enfermedad está causada por mutaciones en el gen <i>GJC2</i> (1q41-q42), que codifica la proteína de unión gap gamma 2."},"it":{"name":"Paraplegia spastica autosomica recessiva, tipo 44","synonyms":["SPG44"],"definition":"La paraplegia spastica autosomica recessiva tipo 44 (SPG44) è una forma molto rara e complessa di paraplegia spastica ereditaria, caratterizzata da paraplegia spastica ad esordio tardivo e progressione lenta, associata a modesta atassia e disartria, interessamento delle estremità superiori (perdita della destrezza delle dita, dismetria) e lieve deficit cognitivo, in assenza di nistagmo. E' costante la leucodistrofia ipomielinizzante e l'assottigliamento del corpo calloso; lo sviluppo psicomotorio è normale o pressoché normale. La SPG44 è causata dalle mutazioni del gene GJC2 (1q41-q42) che codifica la proteina gamma 2 della giunzione comunicante."},"nl":{"name":"Autosomaal recessieve spastische paraplegie type 44","synonyms":["SPG44"],"definition":"Autosomaal recessieve spastische paraplegie type 44 (SPG44) is een zeer zeldzame, complexe vorm van erfelijke spastische paraplegie die gekarakteriseerd wordt door laat aanvangende, traag progressieve spastische paraplegie, geassocieerd met milde ataxie en dysartrie, betrokkenheid van bovenste ledematen (i.e. verlies van beweeglijkheid van de vingers, dysmetrie), en milde cognitieve beperking, zonder aanwezigheid van nystagmus. In alle gevallen worden een hypomyeliniserende leukodystrofie en dun corpus callosum waargenomen, en de psychomotorische ontwikkeling is normaal of nagenoeg normaal. SPG44 wordt veroorzaakt door mutaties in het gen <i>GJC2</i> (1q41-q42), dat codeert voor het gap junction gamma-2 proteïne."},"pt":{"name":"Paraplegia espástica autossómica recessiva tipo 44"},"pl":{"name":"Autosomalna recesywna paraplegia spastyczna typu 44","synonyms":["SPG44"]},"cs":{"name":"Autozomálně recesivní spastická paraplegie, typ 44","synonyms":["SPG44"]},"uk":{"name":"Аутосомно-рецесивна спастична параплегія, тип 44","synonyms":["SPG44"],"definition":"Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the <i>GJC2</i> gene (1q41-q42) encoding the gap junction gamma-2 protein."},"zh":{"name":"常染色体隐性遗传痉挛性截瘫44型","synonyms":["SPG44"],"definition":"常染色体隐性痉挛性截瘫44型(SPG44)是一种非常罕见的复杂形式的遗传性痉挛性截瘫，其特征是迟发性、缓慢进行性痉挛性截瘫，伴有轻度共济失调和构音障碍、上肢受累(即手指灵活性丧失、对称性障碍)和轻度认知障碍，无眼球震颤。在所有病例中都观察到髓鞘质不足的脑白质营养不良和薄胼胝体，精神运动发育正常或接近正常。SPG44是由编码间隙连接γ-2蛋白的GJC2基因(1q41-q42)突变引起的。"},"tr":{"name":"Otozomal resesif spastik parapleji tip 44","synonyms":["SPG44"]}},"xrefs":[{"source":"OMIM","code":"613206","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":"0013179","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567707","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750784","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"17478","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]}],"children":[],"genes":[{"symbol":"GJC2","name":"gap junction protein gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19056803[PMID]","hgnc":"17494","ensembl":"ENSG00000198835","omim":"608803","loci":["1q42.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"19056803[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19056803[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-04-06","source":"19056803[PMID]","terms":[{"hpo":"HP:0006958","label":"Abnormal auditory evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012896","label":"Abnormal motor evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007377","label":"Abnormality of somatosensory evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002061","label":"Lower limb spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null}]}}