206:
412:, the injection of the enzyme would alleviate the symptoms caused the disease. The functional enzyme is produced by genetically modified cells in the laboratory. It is then harvested, purified and eventually injected into the patient's body. With this enzyme, the body will be able to convert glycogen to glucose, providing the body with energy and thus alleviating the problem of energy deficiency in the muscles and heart. However, the
172:
the LAMP2 gene lead to little to no LAMP-2 protein production, impairing the transport of cellular materials into the lysosome. Without the LAMP-2 protein, fusion between autophagic vacuoles and lysosomes occurs much slower, leading to the accumulation of autophagic vacuoles. This accumulation leads to the breakdown of muscle cells, thereby causing the muscle weakness exhibited in Danon disease patients.
189:
humans, a mutation in that particular X chromosome could already cause the disease. Therefore, males typically exhibit more severe symptoms than females. Because Danon disease is X-linked, this means that fathers cannot pass their X-linked traits to their sons because males always pass their Y-chromosome to their male offsprings.
334:. However, it has been discovered that the use of muscle biopsies alone tends to result in false-negative results and subsequent delays in identifying and treating Pompe disease. Therefore, a combination of several tests is typically used in conjunction to confirm whether a patient has Pompe disease.
196:
pattern. Since females have two X-chromosomes, this means that females may be carriers who are asymptomatic or only showing mild symptoms. Meanwhile, males become diseased if they inherit just one X-chromosome that contains the mutated VMA21 gene. Similar to Danon disease, males with XMEA cannot pass
341:
and an enlarged heart, are typical to other conditions too. As such, a thorough and differential diagnosis by specialists can help to distinguish Pompe from other diseases with similar symptoms. Supposing the differential diagnosis concludes that Pompe disease is indeed present, further testing such
43:
characteristics and an excess of autophagic vacuoles. There are currently five types of AVM identified. The signs and symptoms become more severe over the course of the disease. It begins with an inability to pick up small objects and progresses to difficulty in walking. The age of onset varies from
499:
actually managed to cure the mice from Danon disease. This method could be a permanent solution since the gene would be able to generate the protein needed and normal functions of the protein would be restored. Nevertheless, this method has not yet been trialed on human subjects so it needs further
284:
and death, of which the severity depends on age of onset, organ involvement, and rate of progression. The onset of Pompe disease varies from infantile, late-infantile, childhood, juvenile, and adult-onset, though Pompe disease is broadly classified into just infant and late-onset. Specifically, for
171:
The causes of the disease is different mutation occurring in the aforementioned genes. For Danon disease which is related to LAMP2, since the LAMP2 gene is responsible for the production of the LAMP-2 protein, which plays a role in the transport of cellular materials into the lysosome, mutations of
188:
pattern. The LAMP2 gene associated with Danon disease is located on the X-chromosome. Since the X-chromosome is one of the two sex chromosomes, females may develop the disease with just one mutation in one of their two copies of the X-chromosome. Since there is only one X-chromosome present in
388:
to replace or add genes to the body so that the body can produce the required protein. ERT has been the main form of treatment though its effect is temporary. While gene therapy could be the ultimate cure, it is still under active research and more time is required before it can be applied to
197:
the mutated gene to their sons, but will pass the gene to their daughters, who will be carriers. Female carriers have a subsequent 25% chance of having a carrier daughter, a 25% chance to have a non-carrier daughter, a 25% chance to have a diseased son, and a 25% son to have a healthy son.
237:
would be affected. The symptoms are progressive. Patients might start off having difficulty in buttoning their clothes and picking up tiny objects. As it progresses to a more severe stage, they would have difficulty walking and rising up from the chair.
427:
A major limitation of ERT is that injections are needed routinely, meaning that ERT may not be a permanent cure since it can only improve the patient's muscle strength in the short term. Another constraint is that the enzyme is unable to cross the
1407:
Kuperus E, Kruijshaar ME, Wens SC, de Vries JM, Favejee MM, van der
Meijden JC, et al. (December 2017). "Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study".
483:. Gene therapy starts with the repairing or replacement of the gene that causes the disease. If this does not work, additional genes will be inserted into the body to address the mutated gene.
87:, leading to the accumulation of autophagic vacuoles. The result is the breakdown of muscle cells, which attributes to muscle weakness in patients with AVM. The mode of transmission is
1360:"Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease"
322:
features of Pompe disease. In other words, the overlapping signs and symptoms that Pompe disease shares with other neuromuscular diseases, such as muscle weakness and even
141:
127:
76:
424:
are often consumed simultaneously to reduce the number of neutralising antibodies that could prevent the exogenous enzyme from exerting its effect.
1724:
1606:
1468:
859:
825:
99:. Other types of AVM are less researched in terms of their mode of transmission, but it is known that these diseases are all gene-related.
1211:
Dubrovsky A, Corderi J, Karasarides T, Taratuto AL (April 2013). "Pompe disease, the must-not-miss diagnosis: A report of 3 patients".
365:(EMG) to assess for the presence of muscle injury and dysfunction, are additional tests that are performed to diagnosis Pompe disease.
315:, symptoms, a physical exam, and laboratory tests. In addition, a diagnosis may also include a biopsy of the affected muscle tissue.
955:
405:
145:
1280:
Bhui R, Spector AR (April 2020). "Obstructive sleep apnea in late-onset Pompe disease treated by enzyme replacement therapy".
1647:"Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease"
193:
96:
318:
For example, the diagnosis of Pompe disease presents a serious diagnostic dilemma as a result of the rarity and nonspecific
286:
185:
184:, meaning the gene with regards to AVM is located on a sex chromosome. Danon disease is hereditary and is inherited in an
92:
106:, alongside a thorough examination of the patient's history and symptoms. Treatment of the disease currently involves
1147:
265:, and skeletal myopathy. Men may also have varying degrees of intellectual disability with additional symptoms being
397:
374:
107:
296:
XMEA exhibits a similar set of symptoms as other AVMs, though the age of onset is predominantly during childhood.
148:
are better researched in terms of the gene causing the disorder. XMEA is linked to mutations in the VMA21 gene at
1014:
290:
222:
1176:
Vissing J, Lukacs Z, Straub V (July 2013). "Diagnosis of Pompe disease: muscle biopsy vs blood-based assays".
429:
214:
726:"[Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies]"
683:
488:
421:
409:
350:
343:
323:
161:
280:
Patients with Pompe disease exhibit a similar set of symptoms, ranging from progressive debilitation, to
417:
239:
205:
439:
Despite the clear clinical benefits, some side effects from ERT are exhibited. These included mild
358:
56:
20:
542:"Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy"
1674:
1645:
Manso AM, Hashem SI, Nelson BC, Gault E, Soto-Hermida A, Villarruel E, et al. (March 2020).
1543:
1433:
1305:
1236:
995:
581:
307:
for genetic or rare diseases are often challenging. As such, diagnosis includes a combination of
36:
1666:
1602:
1535:
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1228:
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1129:
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951:
855:
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785:
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662:
573:
331:
274:
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1525:
1456:
1417:
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1371:
1332:
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1119:
1111:
1065:
1026:
979:
943:
845:
813:
777:
737:
652:
644:
631:
Weihl CC, Iyadurai S, Baloh RH, Pittman SK, Schmidt RE, Lopate G, et al. (March 2015).
563:
553:
472:
362:
354:
79:
is caused by mutations of the VMA21 gene. These gene mutations slow down the fusion between
1646:
1488:
1323:
Appleby CE, Kingston PA (June 2004). "Gene therapy for restenosis--what now, what next?".
504:
to show its validity. The same concept could be applied to other AVM, targeting different
327:
312:
308:
266:
234:
230:
103:
1586:
1052:
Bay LB, Denzler I, Durand C, Eiroa H, Frabasil J, Fainboim A, et al. (August 2019).
1255:
1384:
1359:
1124:
1115:
1099:
657:
632:
568:
541:
501:
326:, create significant challenges for diagnosis. Muscle biopsy is often used as an early
258:
243:
226:
1098:
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. (May 2006).
874:
168:
gene is unrelated to the two diseases, though the specific genes related are unknown.
1718:
1678:
1621:
1309:
602:
585:
505:
496:
484:
401:
281:
270:
164:
respectively. For infantile AVM and adult onset AVM with multiorgan involvement, the
137:
131:
123:
68:
32:
1695:
1437:
999:
1561:
1547:
1240:
480:
433:
385:
209:
Comparison of a normal heart (left) and a heart with dilated cardiomyopathy (right)
157:
114:
is a possibility for the future, a solution which may cure the disease completely.
111:
28:
24:
1358:
Johnson EM, Roberts M, Mozaffar T, Young P, Quartel A, Berger KI (February 2016).
1031:
903:
1662:
1421:
558:
1189:
947:
742:
725:
444:
338:
1375:
1293:
970:
Strehle EM (August 2009). "Food for thought: autophagic vacuolar myopathies".
781:
648:
495:
gene have shown that the injection of the normal human LAMP2B gene into Lamp2
460:
262:
181:
64:
40:
1539:
1460:
1336:
1070:
1053:
850:
842:
Talking and
Listening in the Age of Modernity: Essays on the history of sound
817:
789:
246:
affects 15-30% of AVM patients. The age of onset typically ranges from early
1598:
983:
413:
378:
319:
304:
251:
247:
218:
80:
49:
45:
1670:
1429:
1393:
1344:
1301:
1232:
1197:
1133:
1079:
991:
751:
666:
577:
353:
to determine mutations, should be performed for confirmation. In addition,
491:
9 (AAV9)–mediated gene therapy. Clinical studies on mice with the mutated
1530:
1513:
476:
456:
448:
373:
There are two major approaches to treating
Autophagic Vacuolar Myopathy:
88:
84:
60:
377:(ERT) to compensate for the deficiency of the original enzyme by adding
440:
1224:
452:
381:
346:
337:
As mentioned, the signs and symptoms of Pompe disease, such as poor
342:
as enzyme activity tests to measure the levels and activity of the
492:
204:
165:
153:
134:, infantile AVM, and adult onset AVM with multiorgan involvement.
72:
289:(IOPD), their symptoms eventually result in their deaths due to
213:
In general, the signs and symptoms of AVM are similar to common
149:
192:
Though also X-linked, the transmission pattern of XMEA is of a
940:
Encyclopedic
Dictionary of Genetics, Genomics and Proteomics
840:
Johnson B (November 2007), "9. Voice, Power and
Modernity",
1451:
Matzner U (2005). "Therapy of
Lysosomal Storage Diseases".
487:, the most common form of AVM, could possibly be cured by
152:
while Danon disease and Pompe
Disease are associated with
1054:"Infantile-onset Pompe disease: Diagnosis and management"
35:. The features highlighted are vacuolar membranes of the
508:
by introducing the normal version of the mutated gene.
293:
as soon as their first year of developing the disease.
257:
In addition, patients of Danon disease also experience
768:
Leah Plumb A (April 2004). "Genetics Home
Reference".
277:. Carrier females may exhibit these symptoms as well.
479:
of the genes. In this way, AVM can be addressed with
447:, a life-threatening allergy. Other side effects are
684:"Test | Invitae Autophagic Vacuolar Myopathy Panel"
311:, followed by a thorough examination of a person's
242:is exhibited in approximately 20% of patients, and
1514:"Genzyme's Lumizyme clears bioequivalence hurdles"
1100:"Pompe disease diagnosis and management guideline"
217:, including limb-girdle weakness, scapuloperoneal
633:"Autophagic vacuolar pathology in desminopathies"
361:(ECG) to detect abnormal heartbeat patterns, and
1587:"What Makes Genetic Discrimination Exceptional?"
1152:NORD (National Organization for Rare Disorders)
812:, SAGE Publications Ltd, pp. 23–44, 2007,
8:
1148:"X-Linked Myopathy with Excessive Autophagy"
603:"KEGG DISEASE: Autophagic vacuolar myopathy"
443:towards the enzyme, which may snowball into
432:, meaning that ERT is unable to correct the
942:, John Wiley & Sons, Inc., 2004-07-15,
810:Integrative Therapy: A Practitioner's Guide
597:
595:
102:Diagnosis of AVM involves various types of
408:is caused by the deficiency of the enzyme
128:X-linked myopathy with excessive autophagy
1529:
1383:
1123:
1069:
1030:
849:
741:
656:
567:
557:
730:Rinsho Shinkeigaku = Clinical Neurology
516:
1690:
1688:
1482:
1480:
1275:
1273:
1271:
1269:
1171:
1169:
1167:
416:enzyme might induce the production of
285:patients with the progressive form of
1093:
1091:
1089:
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1043:
1041:
933:
931:
929:
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7:
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676:
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536:
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532:
530:
528:
526:
524:
522:
520:
349:, or genetic testing to examine the
1116:10.1097/01.gim.0000218152.87434.f3
1015:"Limb Girdle Muscular Dystrophies"
14:
1455:. Springer US. pp. 112–129.
1058:Archivos Argentinos de Pediatria
972:Archives of Disease in Childhood
393:Enzyme replacement therapy (ERT)
357:to check for an enlarged heart,
52:, affecting people of all ages.
19:(AVM) consists of multiple rare
1593:, Routledge, pp. 169–208,
71:is caused by a mutation of the
1725:Genetic diseases and disorders
1651:Science Translational Medicine
808:"Does Therapy Work and How?",
1:
1696:"How does gene therapy work?"
1032:10.15844/pedneurbriefs-17-5-6
1013:Millichap, J. Gordon (2011),
552:(8): 371.2–371. August 2019.
463:and abnormal blood pressure.
287:infantile-onset Pompe disease
122:There are five types of AVM:
1663:10.1126/scitranslmed.aax1744
1489:"Enzyme Replacement Therapy"
1422:10.1212/WNL.0000000000004711
1256:"Diagnosis of Pompe Disease"
559:10.1212/wnl.0000000000007478
17:Autophagic vacuolar myopathy
1562:"Lumizyme | About Lumizyme"
1487:Schoenbach A (2018-09-10).
1190:10.1001/2013.jamaneurol.486
948:10.1002/0471684228.egp03102
743:10.5692/clinicalneurol.50.1
91:, with Danon Disease being
1741:
1019:Pediatric Neurology Briefs
724:Nishino I (January 2010).
398:Enzyme Replacement Therapy
375:Enzyme Replacement Therapy
108:Enzyme Replacement Therapy
63:in different parts of the
1591:Genetics and Gene Therapy
1376:10.1002/14651858.cd012993
1294:10.1016/j.nmd.2020.02.004
782:10.1108/09504120410528234
649:10.1016/j.nmd.2014.12.002
436:symptoms of the disease.
291:cardiorespiratory failure
1585:Hellman D (2017-09-08),
1461:10.1007/0-387-28957-7_10
1337:10.2174/1566523043346435
1071:10.5546/aap.2019.eng.271
938:"Danon Disease (Xq24)",
851:10.22459/tlam.11.2007.09
818:10.4135/9781446279892.n2
330:in the diagnosis of all
1700:Genetics Home Reference
1626:Genetics Home Reference
1622:"What is gene therapy?"
1599:10.4324/9781315254517-7
1364:Neuromuscular Disorders
1282:Neuromuscular Disorders
984:10.1136/adc.2008.155010
908:Genetics Home Reference
637:Neuromuscular Disorders
422:immunosuppressive drugs
418:neutralising antibodies
400:has been used to treat
324:cardiovascular diseases
215:neuromuscular disorders
1254:Iskit S (3 May 2018).
489:adeno-associated virus
410:acid alpha-glucosidase
344:acid alpha-glucosidase
210:
1512:Ratner M (Aug 2009).
240:Peripheral neuropathy
208:
180:Most of the AVMs are
118:Categories and causes
1531:10.1038/nbt0809-685a
1518:Nature Biotechnology
1325:Current Gene Therapy
1104:Genetics in Medicine
156:gene located on the
430:blood-brain barrier
176:Mode of inheritance
81:autophagic vacuoles
37:autophagic vacuoles
1493:Pompe Disease News
1260:Pompe Disease News
1213:Muscle & Nerve
441:allergic reactions
359:electrocardiograms
229:. Both muscles of
211:
201:Signs and symptoms
194:X-linked recessive
97:X-linked recessive
1657:(535): eaax1744.
1608:978-1-315-25451-7
1470:978-0-387-25562-0
1416:(23): 2365–2373.
1225:10.1002/mus.23643
861:978-1-921313-47-9
827:978-1-4129-1211-2
770:Reference Reviews
389:patients of AVM.
332:muscular diseases
275:pulmonary disease
186:X-linked dominant
93:X-linked dominant
21:genetic disorders
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473:genetic diseases
461:chest discomfort
59:are caused by a
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1050:
1039:
1012:
1011:
1007:
969:
968:
964:
958:
937:
936:
921:
912:
910:
904:"Danon disease"
902:
901:
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872:
868:
862:
839:
838:
834:
828:
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688:www.invitae.com
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518:
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502:clinical trials
469:
395:
371:
363:electromyograms
328:diagnostic tool
313:medical history
309:genetic testing
302:
235:lower extremity
223:distal myopathy
203:
178:
120:
104:genetic testing
95:and XMEA being
12:
11:
5:
1738:
1736:
1728:
1727:
1717:
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1711:
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1637:
1613:
1607:
1577:
1553:
1504:
1476:
1469:
1443:
1399:
1350:
1315:
1288:(4): 329–330.
1265:
1246:
1219:(4): 594–600.
1203:
1178:JAMA Neurology
1163:
1139:
1085:
1064:(4): 271–278.
1037:
1005:
962:
956:
919:
890:
866:
860:
832:
826:
795:
757:
699:
672:
643:(3): 199–206.
618:
591:
515:
513:
510:
506:gene mutations
468:
465:
394:
391:
370:
367:
301:
298:
259:cardiomyopathy
244:cardiomyopathy
227:cardiomyopathy
202:
199:
177:
174:
119:
116:
13:
10:
9:
6:
4:
3:
2:
1737:
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1411:
1403:
1400:
1395:
1391:
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1381:
1377:
1373:
1370:(2): 136–45.
1369:
1365:
1361:
1354:
1351:
1346:
1342:
1338:
1334:
1331:(2): 153–82.
1330:
1326:
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1307:
1303:
1299:
1295:
1291:
1287:
1283:
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1121:
1117:
1113:
1110:(5): 267–88.
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1090:
1086:
1081:
1077:
1072:
1067:
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