{"orpha":98911,"name":"Distal myotilinopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98911/","orphanet_url":"https://www.orpha.net/en/disease/detail/98911","names":{"fr":{"name":"Myotilinopathie distale","definition":"Myopathie myofibrillaire rare, apparaissant tardivement chez l'adulte, caractérisée par une faiblesse progressive des muscles distaux associée à une neuropathie périphérique et à une hyporéflexie. Elle peut entraîner une perte de la mobilité en quelques années."},"de":{"name":"Myotilinopathie, distale","definition":"Die distale Myotilinopathie ist eine seltene, im späten Erwachsenenalter auftretende myofibrilläre Myopathie, die durch eine progressive distale Muskelschwäche in Verbindung mit peripherer Neuropathie und Hyporeflexie gekennzeichnet ist. Der Verlust der Gehfähigkeit kann innerhalb weniger Jahre eintreten."},"es":{"name":"Miotilinopatía distal","definition":"Es una miopatía miofibrilar poco frecuente, de inicio en la edad adulta tardía, caracterizada por la aparición progresiva de debilidad muscular distal progresiva asociada a neuropatía periférica e hiporreflexia. La capacidad de ambulación puede perderse en el plazo de unos años."},"it":{"name":"Miotilinopatia distale","definition":"La miotilinopatia distale è una miopatia miofibrillare rara ad esordio tardivo nell'età adulta; è caratterizzata da debolezza progressiva dei muscoli distali associata a neuropatia periferica e iporeflessia. Può causare la perdita della deambulazione nell'arco di pochi anni."},"nl":{"name":"Distale myotilinopathie","definition":"Een zeldzame myofibrillaire myopathie met aanvang in de late volwassenheid, gekarakteriseerd door progressieve distale spierzwakte geassocieerd met perifere neuropathie en hyporeflexie. Het vermogen om te stappen kan binnen een aantal jaar verloren gaan."},"pt":{"name":"Miotilinopatia"},"pl":{"name":"Miotylinopatia dystalna"},"cs":{"name":"Distální myotilinopatie"},"uk":{"name":"Дистальна міотилінопатія","definition":"A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years."},"zh":{"name":"远端肢带型肌营养不良症1A","definition":"该病是一种罕见的、成人起病的肌原纤维肌病，其特征是进行性远端肌肉无力，伴有周围神经病变和反射减弱，可能在几年内丧失行走能力。"},"tr":{"name":"Distal miyotilinopati"}},"xrefs":[{"source":"OMIM","code":"609200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C76","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012215","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707358","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":266,"name":"Autosomal dominant limb-girdle muscular dystrophy type 1A","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]},{"orpha":209224,"name":"Myotilinopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"MYOT","name":"myotilin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15111675[PMID]_16793270[PMID]_21361873[PMID]","hgnc":"12399","ensembl":"ENSG00000120729","omim":"604103","loci":["5q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.9,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-05","source":"16380616[PMID]_3275904[PMID]_12428213[PMID]_9828127[PMID]_21336781[PMID]","terms":[{"hpo":"HP:0030226","label":"Abnormal muscle fiber myotilin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009063","label":"Progressive distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003736","label":"Autophagic vacuoles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003698","label":"Difficulty standing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012515","label":"Hip flexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100297","label":"Increased endomysial connective tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006376","label":"Limited elbow flexion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005085","label":"Limited knee flexion/extension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006794","label":"Loss of ability to walk in first decade","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009073","label":"Progressive proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012496","label":"Reduced maximal inspiratory pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002792","label":"Reduced vital capacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}