 | DISEASE: Autophagic vacuolar myopathy | Help |
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| Name | Autophagic vacuolar myopathy |
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| Description | Autophagic vacuolar myopathies (AVM) are a group of disorders united by shared histopathological features on muscle biopsy that include the aberrant accumulation of autophagic vacuoles. They are characterized by autophagic vacuoles in which the vacuolar membranes have sarcolemmal features, and include four entities: Danon disease, X-linked myopathy with excessive autophagy (XMEA), infantile AVM, and adult onset AVM with multiorgan involvement. Danon disease has been shown to be associated with mutations in the LAMP2 gene located on the X chromosome. XMEA is characterized by weakness and wasting primarily of the proximal muscles of the lower extremities. Mutations in the VMA21 gene at Xq28 cause XMEA by reducing the activity of lysosomal hydrolases. |
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| Category | Nervous system disease; Musculoskeletal disease |
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| Brite | Human diseases in ICD-11 classification [BR:br08403] 08 Diseases of the nervous system Diseases of neuromuscular junction or muscle Primary disorders of muscles 8C72 Congenital myopathies H01781 Autophagic vacuolar myopathy BRITE hierarchy |
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| Gene | LAMP2 [HSA:3920] [KO:K06528] VMA21 [HSA:203547] [KO:K23952] |
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| Comment | See also H00150 Danon disease. |
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| Other DBs | | MeSH: | D052120 C564093 C536522 |
| OMIM: | 300257 310440 609500 |
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| Reference | PMID:16640643 |
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| Authors | Holton JL, Beesley C, Jackson M, Venner K, Bhardwaj N, Winchester B, Al-Memar A |
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| Title | Autophagic vacuolar myopathy in twin girls. |
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| Journal | Neuropathol Appl Neurobiol 32:253-9 (2006)DOI:10.1111/j.1365-2990.2006.00691.x |
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| Reference | PMID:25644398 |
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| Authors | Dowling JJ, Moore SA, Kalimo H, Minassian BA |
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| Title | X-linked myopathy with excessive autophagy: a failure of self-eating. |
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| Journal | Acta Neuropathol 129:383-90 (2015)DOI:10.1007/s00401-015-1393-4 |
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| Reference | PMID:25817839 |
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| Authors | Munteanu I, Ramachandran N, Ruggieri A, Awaya T, Nishino I, Minassian BA |
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| Title | Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy. |
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| Journal | Neurology 84:1714-6 (2015)DOI:10.1212/WNL.0000000000001499 |
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