{"orpha":363623,"name":"GMPPB-related limb-girdle muscular dystrophy R19","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy type 2T","GMPPB-related LGMD R19","LGMD type 2T","LGMD2T","Limb-girdle muscular dystrophy type 2T"],"definition":"A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363623/","orphanet_url":"https://www.orpha.net/en/disease/detail/363623","names":{"fr":{"name":"Dystrophie musculaire des ceintures associée à GMPPB R19","synonyms":["Dystrophie musculaire des ceintures autosomique récessive type 2T","Dystrophie musculaire des ceintures type 2T","LGMD associée à GMPPB R19","LGMD type 2T","LGMD2T"],"definition":"La dystrophie musculaire des ceintures autosomique récessive type 2T (LGMD2T) est une forme de dystrophie musculaire des ceintures pouvant se manifester de la naissance au début de l'enfance. Elle se caractérise par une hypotonie, une microcéphalie, une faiblesse musculaire proximale légère (conduisant à une acquisition retardée de la marche et à des difficultés pour monter des escaliers), un léger déficit intellectuel et une épilepsie. Les signes additionnels rapportés chez certains patients incluent des cataractes, un nystagmus, une cardiomyopathie et une insuffisance respiratoire."},"de":{"name":"GMPPB-assoziierte Gliedergürtelmuskeldystrophie R19","synonyms":["GMPPB-assoziierte LGMD R19","Gliedergürtelmuskeldystrophie Typ 2T","Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2T","LGMD Typ 2T","LGMD2T"],"definition":"Eine Form der Gliedergürtel-Muskeldystrophie, die von der Geburt bis zur frühen Kindheit auftreten kann und durch Hypotonie, Mikrozephalie, leichte proximale Muskelschwäche (die zu verzögertem Gehen und Schwierigkeiten beim Treppensteigen führt), leichte Intelligenzminderung und Epilepsie gekennzeichnet ist. Zusätzliche Manifestationen, über die bei einigen Patienten berichtet wurde, sind Katarakte, Nystagmus, Kardiomyopathie und respiratorische Insuffizienz."},"es":{"name":"Distrofia muscular de cinturas R19 asociada a GMPPB","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2T","LGMD2T"],"definition":"Es una forma de distrofia muscular de cinturas, que puede presentarse desde el nacimiento hasta la infancia temprana, caracterizada por hipotonía, microcefalia, debilidad muscular proximal leve (ocasionando un retraso de la marcha y dificultad para subir escaleras), discapacidad intelectual leve y epilepsia. Las manifestaciones adicionales descritas en algunos pacientes incluyen cataratas, nistagmo, miocardiopatía e insuficiencia respiratoria."},"it":{"name":"Distrofia muscolare dei cingoli autosomica recessiva, tipo 2T","synonyms":["LGMD2T"],"definition":"La distrofia muscolare dei cingoli autosomica recessiva tipo 2T (LGMD2T) è una forma di distrofia muscolare dei cingoli, che esordisce nel periodo neonatale o nella prima infanzia con ipotonia, microcefalia, debolezza lieve dei muscoli prossimali (che causa ritardo nella deambulazione e difficoltà nel salire le scale), lieve disabilità intellettiva ed epilessia. Alcuni pazienti possono presentare anche cataratta, nistagmo, cardiomiopatia e insufficienza respiratoria."},"nl":{"name":"GMPPB-gerelateerde limb-girdle-spierdystrofie R19","synonyms":["Autosomaal recessieve limb-girdle-spierdystrofie type 2T","GMPPB-gerelateerde LGMD R19","LGMD type 2T","LGMD2T","Limb-girdle-spierdystrofie type 2T","Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2T","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2T"],"definition":"Een vorm van limb-girdle-spierdystrofie die kan aanvangen vanaf de geboorte tot in de vroege kindertijd, en die gekarakteriseerd wordt door hypotonie, microcefalie, milde zwakte van proximale spieren (met als gevolg vertraagd verwerven van stapvermogen en moeilijkheden bij het beklimmen van trappen), milde intellectuele achterstand, en epilepsie. Bijkomende manifestaties die bij sommige patiënten worden gerapporteerd, zijn onder meer cataract, nystagmus, cardiomyopathie, en respiratoire insufficiëntie."},"pt":{"name":"Distrofia muscular das cinturas dos membros R19 GMPPB-relacionada","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2T"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2T","synonyms":["LGMD2T"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2T","synonyms":["LGMD2T"]},"uk":{"name":"GMPPB-асоційована кінцівково-поясна мязова дистрофія R19","synonyms":["Аутосомно-рецесивна мязова дистрофія скелетних мязів кінцівок, тип 2Т","LGMD R19, повязаний з GMPPB","LGMD тип 2T","LGMD2T","Мязова дистрофія мязів поясу кінцівок, тип 2Т"],"definition":"A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency."},"zh":{"name":"GMPPB基因相关肢带型肌营养不良R19型","synonyms":["常染色体隐性遗传性肢带型肌营养不良2T型"],"definition":"本病是一种四肢带状肌营养不良症，可从出生到儿童早期出现，特征是肌张力低下、小头畸形、轻度近端肌肉无力(导致行走延迟和爬楼梯困难)、轻度智力障碍和癫痫。据报道，一些患者的其他表现包括白内障、眼球震颤、心肌病和呼吸功能不全。"},"tr":{"name":"GMPPB-ilişkili ekstremite-kuşak kas distrofisi R19","synonyms":["LGMD2T","LGMD tip 2T","GMPPB-related LGMD R19","Ekstremite-kavşak tipi kas distrofisi tip 2T","Otozomal çekinik ekstremite-kavşak kas distrofisi tip 2T"]}},"xrefs":[{"source":"OMIM","code":"615352","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.41","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014142","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518000","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":102015,"name":"Autosomal recessive limb-girdle muscular dystrophy","classifications":[156,181]},{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"GMPPB","name":"GDP-mannose pyrophosphorylase B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23768512[PMID]","hgnc":"22932","ensembl":"ENSG00000173540","omim":"615320","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"23768512[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-28","source":"23768512[PMID]_26133662[PMID]","terms":[{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006698","label":"Dilatation of the ventricular cavity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003403","label":"EMG: decremental response of compound muscle action potential to repetitive nerve stimulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030192","label":"Fatigable weakness of bulbar muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}