{"orpha":98912,"name":"Late-onset distal myopathy, Markesbery-Griggs type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ZASP-related myofibrillar myopathy"],"definition":"A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98912/","orphanet_url":"https://www.orpha.net/en/disease/detail/98912","names":{"fr":{"name":"Myopathie distale tardive type Markesbery-Griggs","synonyms":["Myopathie myofibrillaire par mutation du gène ZASP"],"definition":"Myopathie non dystrophique rare d'origine génétique, caractérisée par une faiblesse musculaire distale et/ou proximale des membres apparaissant à la fin de l'âge adulte, avec une atteinte initiale des muscles postérieurs de la jambe, du gastrocnémien médial et du soléaire. Les patients présentent une faiblesse de la cheville suivie d'une faiblesse des extenseurs des doigts et du poignet et, plus tard, des muscles proximaux. La mobilité est généralement préservée. Les cas d'association avec une cardiomyopathie et/ou une neuropathie d'apparition tardive ont été rapportés dans une minorité de cas."},"de":{"name":"Spät-beginnende distale Myopathie Typ Markesbery-Griggs","synonyms":["ZASP-abhängige myofibrilläre Myopathie"]},"es":{"name":"Miopatía distal de inicio tardío tipo Maskerbery-Griggs","synonyms":["Miopatía miofibrilar ligada a ZASP"],"definition":"Es una miopatía miofibrilar no distrófica, genética y poco frecuente, caracterizada por el inicio en la edad adulta tardía de debilidad muscular distal y/o proximal de las extremidades, con afectación inicial de los músculos posteriores de la parte inferior de las piernas, el gastrocnemio medial y el sóleo. Los afectados presentan debilidad del tobillo, seguida por debilidad de los extensores de los dedos de la mano y la muñeca que progresa posteriormente a los músculos proximales. La deambulación suele estar preservada. En un reducido número de casos, se ha descrito cardiomiopatía y/o neuropatía de inicio tardío."},"it":{"name":"Miopatia distale a esordio tardivo, tipo Markesbery-Griggs","synonyms":["Miopatia miofibrillare ZASP-correlata"],"definition":"La miopatia distale ad esordio tardivo, tipo Markesbery-Griggs è una miopatia miofibrillare rara, non distrofica, di origine genetica, che esordisce tardivamente nell'età adulta con debolezza dei muscoli distali e/o prossimali degli arti, che interessa inizialmente i muscoli posteriori della parte inferiore delle gambe, il gastrocnemio mediale ed il soleo. I pazienti presentano debolezza delle caviglie seguita da debolezza degli estensori delle dita delle mani e dei polsi e, successivamente, dei muscoli prossimali. Di solito la deambulazione viene conservata. In rari casi, sono presenti cardiomiopatia ad esordio tardivo e/o neuropatia."},"nl":{"name":"Laat optredende distale myopathie, Markesbery-Griggs-type","synonyms":["ZASP-gerelateerde myofibrillaire myopathie"],"definition":"Een zeldzame, genetische, niet-dystrofische myofibrillaire myopathie, gekarakteriseerd door aanvang in de late volwassenheid van spierzwakte in distale en/of proximale ledematen met initiële betrokkenheid van spieren van de posterieure onderbenen, mediale musculus gastrocnemius (oppervlakkige kuitspier) en musculus soleus (scholspier). Patiënten vertonen zwakte van enkel gevolgd door zwakte van strekspieren van vingers en polsen, en later van proximale spieren. Het vermogen om te stappen blijft meestal bewaard. Bij een minderheid van de gevallen werd geassocieerde cardiomyopathie en/of neuropathie met late aanvang gerapporteerd."},"pt":{"name":"Miopatia distal de início tardio, tipo Markesbery-Griggs","synonyms":["Miopatia miofibrilar relacionada com ZASP"]},"pl":{"name":"Miopatia dystalna o późnym początku, typ Markesbery'ego i Griggsa","synonyms":["Miopatia miofibrylarna związana z ZASP"]},"cs":{"name":"Distální myopatie s pozdním nástupem, Markesberyho-Griggsův typ","synonyms":["ZASP-vázaná myofibrilární myopatie","Distální myopatie s pozdním nástupem, Markesbery-Griggsův typ"]},"uk":{"name":"Пізня дистальна міопатія, тип Маркесбері-Гріггса","synonyms":["Міофібрилярна міопатія, повязана з ZASP"],"definition":"A rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases."},"zh":{"name":"迟发性远端肌病症Markesbery-Griggs型","synonyms":["ZASP相关肌原纤维肌病"],"definition":"该病是一种罕见、遗传性、非营养不良的肌原纤维肌病，特征是成年后出现远端和/或近端肢体肌肉无力，最初累及小腿后肌、腓肠肌内侧和比目鱼肌。患者首先表现为踝关节无力，随后是手指和腕伸肌无力，然后是近端肌肉无力，通常能保留行走能力。少数病例报告了迟发性心肌病和/或神经病。"},"tr":{"name":"Geç başlangıçlı distal miyopati, Markesbery-Griggs tipi","synonyms":["ZASP-ilişkili miyofibriler miyopati"]}},"xrefs":[{"source":"OMIM","code":"609452","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012277","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563718","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836155","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1886","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]},{"orpha":593,"name":"Myofibrillar myopathy","classifications":[156,181]},{"orpha":209050,"name":"Qualitative or quantitative defects of protein ZASP","classifications":[156]}],"children":[],"genes":[{"symbol":"LDB3","name":"LIM domain binding 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20809097[PMID]","hgnc":"15710","ensembl":"ENSG00000122367","omim":"605906","loci":["10q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15668942[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"15668942[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-15","source":"25037092[PMID]_15668942[PMID]_20809097[PMID]_16684602[PMID]","terms":[{"hpo":"HP:0030198","label":"Fatigable weakness of distal limb muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008954","label":"Intrinsic hand muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031374","label":"Ankle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008969","label":"Leg muscle stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009077","label":"Weakness of long finger extensor muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009005","label":"Weakness of the intrinsic hand muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031189","label":"Wrist drop","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009072","label":"Decreased Achilles reflex","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011808","label":"Decreased patellar reflex","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003325","label":"Limb-girdle muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Excluded (0%)","criteria":null}]}}