{"orpha":53347,"name":"Brody myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without <i>ATP2A1</i> mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53347/","orphanet_url":"https://www.orpha.net/en/disease/detail/53347","names":{"fr":{"name":"Myopathie de Brody","definition":"Maladie génétique rare des muscles squelettiques caractérisée par l'apparition, dès l'enfance, d'un trouble progressif de la relaxation musculaire induit par l'exercice, ainsi que par des raideurs, crampes et myalgies, principalement dans les bras, les jambes et le visage (paupières), et sur le plan biochimique, par une activité réduite de la Ca(2+)-ATPase du réticulum sarcoplasmique. Les signes cliniques s'améliorent après quelques minutes de repos et peuvent être aggravés par le froid. Le terme de « syndrome de Brody » désigne un sous-ensemble cliniquement distinct de patients ne présentant pas de mutations d'<i>ATP2A1</i>, chez lesquels la maladie apparaît à l'adolescence ou à l'âge adulte et se manifeste par une atteinte musculaire sélective, la myalgie étant plus courante."},"de":{"name":"Brody-Myopathie","definition":"Eine seltene genetische Skelettmuskelerkrankung, die durch eine im Kindesalter einsetzende, durch körperliche Betätigung verursachte, fortschreitende Beeinträchtigung der Muskelentspannung, Steifheit, Krämpfe und Myalgie, vorwiegend in den Armen, Beinen und im Gesicht (Augenlider), gekennzeichnet ist und biochemisch durch eine verminderte Aktivität der sarkoplasmatischen Retikulum-Ca(2+)-ATPase. Die Symptome verbessern sich nach einigen Minuten Ruhe und können durch Kälte verschlimmert werden. Der Begriff Brody-Syndrom bezieht sich auf eine klinisch unterscheidbare Untergruppe von Patienten ohne <i>ATP2A1</i>-Mutationen, die im Jugend- oder Erwachsenenalter einsetzt und eine selektive Muskelbeteiligung aufweist, wobei Myalgie häufiger auftritt."},"es":{"name":"Miopatía de Brody","definition":"Es una enfermedad del músculo esquelético, genética y poco frecuente caracterizada por el inicio en la infancia de un deterioro progresivo de la relajación muscular, rigidez, calambres y mialgias inducidos por el ejercicio, afectando predominantemente a los brazos, las piernas y la cara (párpados) y, bioquímicamente, por la reducción de la actividad de la ATPasa de Ca2+ del retículo sarcoplásmico. Los síntomas mejoran después de unos minutos en reposo y pueden exacerbarse por la exposición al frío. El término del síndrome de Brody hace referencia a un subconjunto de pacientes clínicamente distinguible sin mutaciones en el gen <i>ATP2A1</i>, de inicio en la adolescencia o en la edad adulta y afectación muscular selectiva, que manifiestan mialgias con mayor frecuencia."},"it":{"name":"Miopatia di Brody","definition":"Si tratta di una malattia muscoloscheletrica genetica rara, che esordisce nell'infanzia con compromissione progressiva del rilassamento dei muscoli, rigidità, crampi e mialgia indotti dall'esercizio fisico, che interessano per lo più le braccia, le gambe e il viso (palpebre). Gli esami biochimici evidenziano la riduzione dell'attività della Ca(2+)-ATPasi del reticolo sarcoplasmatico. I sintomi migliorano dopo alcuni minuti di riposo e possono essere aggravati dal freddo. La definizione ''sindrome di Brody'' si riferisce a un sottogruppo clinicamente distinto di pazienti che non presentano mutazioni di ATP2A1, e mostrano un interessamento muscolare selettivo ad esordio nell'adolescenza o nell'età adulta, in cui la mialgia è più comune."},"nl":{"name":"Brody-myopathie","definition":"Een zeldzame, genetische aandoening van skeletspier, gekarakteriseerd door aanvang in de kindertijd van inspanningsgeïnduceerde progressieve verstoring van spierrelaxatie, stijfheid, krampen, en myalgie, hoofdzakelijk in armen, benen en aangezicht (oogleden), en, biochemisch gekenmerkt door verminderde activiteit van Ca(2+)-ATPase in sarcoplasmatisch reticulum. Symptomen verbeteren na enkele minuten rust en kunnen verergeren bij koude. De term syndroom van Brody verwijst naar een klinisch aparte subgroep van patiënten zonder mutaties in <i>ATP2A1</i>, met aanvang in de adolescentie of volwassenheid en selectieve musculaire betrokkenheid, waarbij myalgie vaker voorkomt."},"pt":{"name":"Miopatia de Brody"},"pl":{"name":"Miopatia Brody'ego"},"cs":{"name":"Brodyho myopatie"},"uk":{"name":"Міопатія Броді","definition":"A rare genetic skeletal muscle disease characterized by childhood onset of exercise-induced progressive impairment of muscle relaxation, stiffness, cramps, and myalgia, predominantly in the arms, legs, and face (eyelids), and, biochemically, by a reduced sarcoplasmic reticulum Ca(2+)-ATPase activity. Symptoms improve after a few minutes of rest and may be exacerbated by cold. The term Brody syndrome refers to a clinically distinguishable subset of patients without <i>ATP2A1</i> mutations, with adolescence or adult onset and selective muscular involvement, in which myalgia is more common."},"zh":{"name":"Brody肌病"},"tr":{"name":"Brody miyopatisi"}},"xrefs":[{"source":"OMIM","code":"601003","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1600541463"},{"source":"MONDO","code":"0010977","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536607","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832918","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9158","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]},{"orpha":209199,"name":"Qualitative or quantitative defects of protein SERCA1","classifications":[156]}],"children":[],"genes":[{"symbol":"ATP2A1","name":"ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10914677[PMID]","hgnc":"811","ensembl":"ENSG00000196296","omim":"108730","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_32040565[PMID]_22704959[PMID]"}],"phenotypes":null}