71:
47:
557:
Molenaar, Joery P.; Verhoeven, Jamie I.; Rodenburg, Richard J.; Kamsteeg, Erik J.; Erasmus, Corrie E.; Vicart, Savine; Behin, Anthony; Bassez, Guillaume; Magot, Armelle; Péréon, Yann; Brandom, Barbara W.; Guglielmi, Valeria; Vattemi, Gaetano; Chevessier, Frédéric; Mathieu, Jean (2020-02-01).
123:
Symptoms include stiffness and sometimes muscle cramping after exercise (pseudo-myotonia) and especially when exposed to cold. The most commonly affected muscles are in the arms, legs, and eyelids. Individuals with Brody myopathy also sometimes experience weakness,
904:
295:
These drugs act by limiting the amount of Ca from being released from the sarcoplasmic reticulum. When a muscle is stimulated, Ca is released from the sarcoplasmic reticulum into the cytoplasm where it binds to a protein called
300:. This event allows the muscle fibers to overlap, causing a contraction. In BD, Ca levels are high in the cytoplasm, which means Ca can readily bind troponin, leading to muscles that are in an extended state of contraction.
439:
Molenaar, Joery P; Verhoeven, Jamie I; Rodenburg, Richard J; Kamsteeg, Erik J; Erasmus, Corrie E; Vicart, Savine; Behin, Anthony; Bassez, Guillaume; Magot, Armelle; Péréon, Yann; Brandom, Barbara W (2020-02-01).
256:, or muscle stiffness that is detected by EMG. Individuals with BD have stiff muscles but normal EMG results (pseudo-myotonia), where no myotonic discharges are detected.
363:
214:, meaning the disease involves mutations in other locations within the genome (although no other loci have been identified in the development of BD as of now).
1004:
288:
Ca release channels in the sarcoplasmic reticulum, while verapamil sequesters Ca in the sarcoplasmic reticulum of muscle cells by functioning as a Ca
1209:
222:
Diagnosis of BD begins with clinical evaluation of individuals for characteristic symptoms of cramping and stiffness of exercised muscles.
1050:
1038:
919:
861:
115:
in the muscles of the limbs and face. Symptoms are heightened by exercise and commonly progress in severity throughout adulthood.
997:
92:
1089:
399:
Brody IA (July 1969). "Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor".
371:
272:
There is no cure for BD, although treatment options are available for reducing the negative symptoms of BD. The drugs
237:
1101:
990:
133:
1159:
930:
796:
560:"Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients"
442:"Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients"
502:
Braz, Luís; Soares-Dos-Reis, Ricardo; Seabra, Mafalda; Silveira, Fernando; Guimarães, Joana (October 2019).
1131:
970:
184:
172:
159:
where each copy of the affected individual's gene contain a mutation. The gene involved in BD encodes the
211:
70:
1136:
1085:
191:, leading to increased levels of cytoplasmic Ca. Increases in cytoplasmic Ca levels interfere with
149:
539:
253:
207:
192:
137:
210:
pattern of inheritance. These cases have revealed that the cause of the disease likely exhibits
187:
in skeletal muscle. In those with BD, SERCA1 pumps are unable to effectively move Ca across the
982:
941:
840:
754:
705:
597:
579:
531:
523:
481:
463:
416:
59:
324:
1013:
862:"Sliding Filament Theory, Sarcomere, Muscle Contraction, Myosin | Learn Science at Scitable"
830:
744:
736:
695:
687:
587:
571:
515:
471:
453:
408:
285:
249:
1189:
289:
281:
257:
241:
229:
160:
88:
46:
723:
Taylor DJ, Brosnan MJ, Arnold DL, Bore PJ, Styles P, Walton J, Radda GK (November 1988).
676:"Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency"
364:"Brody myopathy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
772:
1124:
749:
724:
700:
675:
592:
559:
476:
441:
240:. Biopsies in individuals with BD often show variation in muscle fiber size, atrophied
129:
1203:
1176:
835:
818:
674:
Poels PJ, Wevers RA, Braakhekke JP, Benders AA, Veerkamp JH, Joosten EM (July 1993).
543:
225:
519:
245:
168:
935:
232:, which ranges from normal to slightly elevated in those with BD. Skeletal muscle
176:
819:"Dantrolene--a review of its pharmacology, therapeutic use and new developments"
412:
329:
946:
913:
273:
112:
725:"Ca2+-ATPase deficiency in a patient with an exertional muscle pain syndrome"
583:
527:
467:
740:
503:
277:
108:
64:
844:
601:
575:
535:
485:
458:
758:
709:
691:
420:
965:
817:
Krause T, Gerbershagen MU, Fiege M, Weisshorn R, Wappler F (April 2004).
297:
188:
100:
96:
896:
1154:
180:
125:
625:
91:
function. BD was first characterized in 1969 by Dr. Irwin A. Brody at
1096:
1080:
1068:
1045:
1033:
1017:
908:
650:
280:
are used in BD treatment due to their effects on Ca. Dantrolene is a
233:
164:
154:
1119:
104:
260:
may also be used in the diagnosis of BD to look for mutations in
924:
986:
103:. This difficulty in relaxation leads to symptoms including
54:
This condition is inherited in an autosomal recessive manner
16:
Genetic disorder; difficulty relaxing muscles after exercise
202:
have been observed. Disease transmission in cases of non-
797:"CALAN - verapamil hydrochloride tablet, film coated"
886:
1169:
1146:
1111:
1060:
1025:
956:
890:
58:
29:
24:
729:Journal of Neurology, Neurosurgery, and Psychiatry
680:Journal of Neurology, Neurosurgery, and Psychiatry
195:, leading to the characteristic symptoms of BD.
649:McKusick, Victor; O'Neill, Marla (2017-12-27).
504:"Brody disease: when myotonia is not myotonia"
998:
394:
392:
390:
388:
8:
252:(EMG) can be used in diagnosis to rule out
1005:
991:
983:
887:
773:"Brody myopathy - Conditions - GTR - NCBI"
69:
21:
834:
748:
699:
591:
475:
457:
651:"OMIM Entry - # 601003 - BRODY MYOPATHY"
309:
148:Most cases of BD are inherited through
325:"Brody myopathy: MedlinePlus Genetics"
856:
854:
284:that decreases the symptoms of BD by
198:In some cases of BD, no mutations in
7:
619:
617:
615:
613:
611:
497:
495:
434:
432:
430:
358:
356:
354:
352:
350:
348:
346:
319:
317:
315:
313:
1051:Alternating hemiplegia of childhood
1039:Alternating hemiplegia of childhood
401:The New England Journal of Medicine
87:, is a rare disorder that affects
14:
97:difficulty relaxing their muscles
836:10.1111/j.1365-2044.2004.03658.x
45:
520:10.1136/practneurol-2019-002224
1210:Genetic diseases and disorders
206:BD have been characterized as
93:Duke University Medical Center
1:
564:Brain: A Journal of Neurology
244:muscle fibers, and increased
228:may be used to measure serum
1090:Acrokeratosis verruciformis
413:10.1056/NEJM196907242810403
95:. Individuals with BD have
1226:
624:Reference, Genetics Home.
1185:
368:rarediseases.info.nih.gov
134:pseudoathletic appearance
53:
44:
936:C536607 C536607, C536607
163:skeletal muscle ATPase,
741:10.1136/jnnp.51.11.1425
630:Genetics Home Reference
185:sarcoplasmic reticulum
1102:Hailey–Hailey disease
692:10.1136/jnnp.56.7.823
212:genetic heterogeneity
1160:Kufor–Rakeb syndrome
777:www.ncbi.nlm.nih.gov
576:10.1093/brain/awz410
459:10.1093/brain/awz410
236:are used to examine
138:hypertrophic muscles
508:Practical Neurology
150:autosomal recessive
957:External resources
208:autosomal dominant
193:muscle contraction
119:Signs and symptoms
1197:
1196:
980:
979:
78:
77:
19:Medical condition
1217:
1177:Osteopetrosis B1
1137:Wilson's disease
1086:Darier's disease
1014:Genetic disorder
1007:
1000:
993:
984:
888:
876:
875:
873:
872:
858:
849:
848:
838:
814:
808:
807:
801:
793:
787:
786:
784:
783:
769:
763:
762:
752:
720:
714:
713:
703:
671:
665:
664:
662:
661:
646:
640:
639:
637:
636:
621:
606:
605:
595:
554:
548:
547:
499:
490:
489:
479:
461:
436:
425:
424:
396:
383:
382:
380:
379:
370:. Archived from
360:
341:
340:
338:
337:
321:
250:Electromyography
74:
73:
49:
22:
1225:
1224:
1220:
1219:
1218:
1216:
1215:
1214:
1200:
1199:
1198:
1193:
1181:
1165:
1142:
1107:
1056:
1021:
1011:
981:
976:
975:
952:
951:
899:
885:
880:
879:
870:
868:
860:
859:
852:
816:
815:
811:
799:
795:
794:
790:
781:
779:
771:
770:
766:
735:(11): 1425–33.
722:
721:
717:
673:
672:
668:
659:
657:
648:
647:
643:
634:
632:
623:
622:
609:
556:
555:
551:
501:
500:
493:
438:
437:
428:
398:
397:
386:
377:
375:
362:
361:
344:
335:
333:
323:
322:
311:
306:
290:channel blocker
270:
258:Genetic testing
230:creatine kinase
220:
146:
121:
89:skeletal muscle
68:
20:
17:
12:
11:
5:
1223:
1221:
1213:
1212:
1202:
1201:
1195:
1194:
1186:
1183:
1182:
1180:
1179:
1173:
1171:
1167:
1166:
1164:
1163:
1150:
1148:
1144:
1143:
1141:
1140:
1128:
1125:Menkes disease
1115:
1113:
1109:
1108:
1106:
1105:
1093:
1077:
1074:Brody myopathy
1064:
1062:
1058:
1057:
1055:
1054:
1042:
1029:
1027:
1023:
1022:
1012:
1010:
1009:
1002:
995:
987:
978:
977:
974:
973:
961:
960:
958:
954:
953:
950:
949:
938:
927:
916:
900:
895:
894:
892:
891:Classification
884:
883:External links
881:
878:
877:
866:www.nature.com
850:
809:
788:
764:
715:
666:
641:
607:
570:(2): 452–466.
549:
514:(5): 417–419.
491:
452:(2): 452–466.
426:
384:
342:
308:
307:
305:
302:
282:muscle relaxer
269:
266:
219:
216:
179:ions from the
167:. SERCA1 is a
145:
142:
132:. Some have a
130:rhabdomyolysis
120:
117:
83:, also called
81:Brody myopathy
76:
75:
62:
56:
55:
51:
50:
42:
41:
31:
27:
26:
25:Brody myopathy
18:
15:
13:
10:
9:
6:
4:
3:
2:
1222:
1211:
1208:
1207:
1205:
1192:
1191:
1184:
1178:
1175:
1174:
1172:
1168:
1161:
1157:
1156:
1152:
1151:
1149:
1145:
1138:
1134:
1133:
1129:
1126:
1122:
1121:
1117:
1116:
1114:
1110:
1103:
1099:
1098:
1094:
1091:
1087:
1083:
1082:
1078:
1075:
1071:
1070:
1066:
1065:
1063:
1059:
1052:
1048:
1047:
1043:
1040:
1036:
1035:
1031:
1030:
1028:
1024:
1019:
1015:
1008:
1003:
1001:
996:
994:
989:
988:
985:
972:
968:
967:
963:
962:
959:
955:
948:
944:
943:
939:
937:
933:
932:
928:
926:
922:
921:
917:
915:
911:
910:
906:
902:
901:
898:
893:
889:
882:
867:
863:
857:
855:
851:
846:
842:
837:
832:
829:(4): 364–73.
828:
824:
820:
813:
810:
805:
798:
792:
789:
778:
774:
768:
765:
760:
756:
751:
746:
742:
738:
734:
730:
726:
719:
716:
711:
707:
702:
697:
693:
689:
685:
681:
677:
670:
667:
656:
652:
645:
642:
631:
627:
626:"ATP2A1 gene"
620:
618:
616:
614:
612:
608:
603:
599:
594:
589:
585:
581:
577:
573:
569:
565:
561:
553:
550:
545:
541:
537:
533:
529:
525:
521:
517:
513:
509:
505:
498:
496:
492:
487:
483:
478:
473:
469:
465:
460:
455:
451:
447:
443:
435:
433:
431:
427:
422:
418:
414:
410:
407:(4): 187–92.
406:
402:
395:
393:
391:
389:
385:
374:on 2018-09-07
373:
369:
365:
359:
357:
355:
353:
351:
349:
347:
343:
332:
331:
326:
320:
318:
316:
314:
310:
303:
301:
299:
293:
291:
287:
283:
279:
275:
267:
265:
263:
259:
255:
251:
247:
243:
239:
238:muscle fibers
235:
231:
227:
226:Blood testing
223:
217:
215:
213:
209:
205:
201:
196:
194:
190:
186:
182:
178:
174:
170:
166:
162:
158:
156:
152:mutations in
151:
143:
141:
139:
135:
131:
127:
118:
116:
114:
110:
106:
102:
98:
94:
90:
86:
85:Brody disease
82:
72:
66:
63:
61:
57:
52:
48:
43:
39:
35:
34:Brody disease
32:
28:
23:
1187:
1153:
1130:
1118:
1095:
1079:
1073:
1067:
1044:
1032:
1016:, membrane:
964:
940:
929:
918:
903:
869:. Retrieved
865:
826:
822:
812:
803:
791:
780:. Retrieved
776:
767:
732:
728:
718:
686:(7): 823–6.
683:
679:
669:
658:. Retrieved
655:www.omim.org
654:
644:
633:. Retrieved
629:
567:
563:
552:
511:
507:
449:
445:
404:
400:
376:. Retrieved
372:the original
367:
334:. Retrieved
328:
294:
271:
261:
224:
221:
203:
199:
197:
169:protein pump
153:
147:
122:
84:
80:
79:
37:
33:
823:Anaesthesia
330:MedlinePlus
242:fast-twitch
161:fast-twitch
30:Other names
942:DiseasesDB
871:2018-09-25
782:2018-09-25
660:2018-09-25
635:2018-09-07
378:2018-09-07
336:2022-07-27
304:References
286:inhibiting
274:dantrolene
171:that uses
113:discomfort
1188:see also
1020:disorders
584:1460-2156
544:122401141
528:1474-7766
468:0006-8950
278:verapamil
268:Treatment
218:Diagnosis
109:stiffness
65:Neurology
60:Specialty
1204:Category
966:Orphanet
845:15023108
602:32040565
536:30996034
486:32040565
298:troponin
254:myotonia
248:number.
234:biopsies
189:membrane
175:to pump
101:exercise
1155:ATP13A2
806:. 2009.
759:2976810
750:1032814
710:8331362
701:1015068
593:7009512
477:7009512
421:4239835
183:to the
181:cytosol
126:myalgia
1190:ATPase
1097:ATP2C1
1081:ATP2A2
1069:ATP2A1
1046:ATP1A3
1034:ATP1A2
1018:ATPase
925:601003
843:
757:
747:
708:
698:
600:
590:
582:
542:
534:
526:
484:
474:
466:
419:
262:ATP2A1
246:nuclei
204:ATP2A1
200:ATP2A1
165:SERCA1
155:ATP2A1
128:, and
111:, and
105:cramps
99:after
67:
1170:Other
1147:ATP13
1132:ATP7B
1120:ATP7A
971:53347
947:35041
914:G71.8
800:(PDF)
540:S2CID
446:Brain
144:Cause
136:with
1112:ATP7
1061:ATP2
1026:ATP1
931:MeSH
920:OMIM
841:PMID
755:PMID
706:PMID
598:PMID
580:ISSN
532:PMID
524:ISSN
482:PMID
464:ISSN
417:PMID
276:and
905:ICD
831:doi
804:FDA
745:PMC
737:doi
696:PMC
688:doi
588:PMC
572:doi
568:143
516:doi
472:PMC
454:doi
450:143
409:doi
405:281
173:ATP
1206::
1088:,
969::
945::
934::
923::
912::
909:10
864:.
853:^
839:.
827:59
825:.
821:.
802:.
775:.
753:.
743:.
733:51
731:.
727:.
704:.
694:.
684:56
682:.
678:.
653:.
628:.
610:^
596:.
586:.
578:.
566:.
562:.
538:.
530:.
522:.
512:19
510:.
506:.
494:^
480:.
470:.
462:.
448:.
444:.
429:^
415:.
403:.
387:^
366:.
345:^
327:.
312:^
292:.
264:.
177:Ca
140:.
107:,
38:BD
1162:)
1158:(
1139:)
1135:(
1127:)
1123:(
1104:)
1100:(
1092:)
1084:(
1076:)
1072:(
1053:)
1049:(
1041:)
1037:(
1006:e
999:t
992:v
907:-
897:D
874:.
847:.
833::
785:.
761:.
739::
712:.
690::
663:.
638:.
604:.
574::
546:.
518::
488:.
456::
423:.
411::
381:.
339:.
157:,
40:)
36:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
