Global InformationAutophagic vacuolar myopathy information
Autophagic vacuolar myopathy (AVM) consists of multiple rare genetic disorders with common histological and pathological features on muscle biopsy.[1] The features highlighted are vacuolar membranes of the autophagic vacuoles having sarcolemmal characteristics and an excess of autophagic vacuoles.[2] There are currently five types of AVM identified.[1] 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.[3] The age of onset varies from early childhood to late adulthood, affecting people of all ages.[4]
The disorders are caused by a mutation in different parts of the chromosome: Danon disease is caused by a mutation of the LAMP2 gene; XMEA is caused by mutations of the VMA21 gene.[5] These gene mutations slow down the fusion between autophagic vacuoles and lysosomes, leading to the accumulation of autophagic vacuoles.[5] The result is the breakdown of muscle cells, which attributes to muscle weakness in patients with AVM.[5] The mode of transmission is X-linked, with Danon Disease being X-linked dominant and XMEA being X-linked recessive.[6] 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.[6]
Diagnosis of AVM involves various types of genetic testing, alongside a thorough examination of the patient's history and symptoms.[1] Treatment of the disease currently involves Enzyme Replacement Therapy and gene therapy is a possibility for the future, a solution which may cure the disease completely.[7]
- ^ a b c "Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy". Neurology. 93 (8): 371.2–371. August 2019. doi:10.1212/wnl.0000000000007478. PMC 7508314. PMID 31427494. S2CID 201093720.
- ^ "KEGG DISEASE: Autophagic vacuolar myopathy". www.genome.jp. Retrieved 2020-03-29.
- ^ Weihl CC, Iyadurai S, Baloh RH, Pittman SK, Schmidt RE, Lopate G, et al. (March 2015). "Autophagic vacuolar pathology in desminopathies". Neuromuscular Disorders. 25 (3): 199–206. doi:10.1016/j.nmd.2014.12.002. PMC 4355324. PMID 25557463.
- ^ "Test | Invitae Autophagic Vacuolar Myopathy Panel". www.invitae.com. Retrieved 2020-03-29.
- ^ a b c Cite error: The named reference
:3was invoked but never defined (see the help page). - ^ a b Leah Plumb A (April 2004). "Genetics Home Reference". Reference Reviews. 18 (3): 38–39. doi:10.1108/09504120410528234. ISSN 0950-4125.
- ^ "Does Therapy Work and How?", Integrative Therapy: A Practitioner's Guide, SAGE Publications Ltd, pp. 23–44, 2007, doi:10.4135/9781446279892.n2, ISBN 978-1-4129-1211-2