Limb–girdle muscular dystrophy
| Limb–girdle muscular dystrophy | |
|---|---|
| Other names | Erb's muscular dystrophy[1] |
| Protein MYOT (also known as TTID one of the many genes whose mutations are responsible for this condition) | |
| Specialty | Neurology, neuromuscular medicine |
| Symptoms | Pelvic muscle weakness[2] |
| Duration | Lifelong |
| Types | 32 types[3] |
| Causes | Genetic mutations |
| Diagnostic method | Genetic testing, and possibly muscle biopsy[4] |
| Differential diagnosis | Muscular dystrophies: Duchenne, Becker, facioscapulohumeral, Emery-Dreifuss; Pompe disease; congenital myasthenic syndrome; motor neuropathy |
| Treatment | Occupational therapy, speech therapy, and physical therapy[5] |
| Frequency | 2.27–10 per 100,000[6] |
Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics.[7] It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles.[8] LGMD usually has an autosomal pattern of inheritance. It currently has no known cure or treatment.[3][9]
LGMD may be triggered or worsened in genetically susceptible individuals by statins, because of their effects on HMG-CoA reductase.[10]
- ^ Newfoundland, FRCP William Pryse-Phillips MD, FRCP(C) Faculty of Medicine Health Sciences Centre Memorial University of Newfoundland St John's (2009-05-06). Companion to Clinical Neurology. Oxford University Press, USA. p. 579. ISBN 9780199710041.
{{cite book}}: CS1 maint: multiple names: authors list (link) - ^ Cite error: The named reference
nihwas invoked but never defined (see the help page). - ^ a b Straub, V; Murphy, A; Udd, B; LGMD workshop study, group. (August 2018). "229th ENMC international workshop: Limb-girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017". Neuromuscular Disorders. 28 (8): 702–710. doi:10.1016/j.nmd.2018.05.007. hdl:10138/305127. PMID 30055862. S2CID 51865029.
- ^ Cite error: The named reference
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Wicklund2019Reviewwas invoked but never defined (see the help page). - ^ Barton, ER; Pacak, CA; Stoppel, WL; Kang, PB (29 July 2020). "The ties that bind: functional clusters in limb-girdle muscular dystrophy". Skeletal Muscle. 10 (1): 22. doi:10.1186/s13395-020-00240-7. PMC 7389686. PMID 32727611.
- ^ "Limb-girdle muscular dystrophy".
- ^ Pozsgai, E; Griffin, D; Potter, R; Sahenk, Z; Lehman, K; Rodino-Klapac, LR; Mendell, JR (October 2021). "Unmet needs and evolving treatment for limb girdle muscular dystrophies". Neurodegenerative Disease Management. 11 (5): 411–429. doi:10.2217/nmt-2020-0066. PMID 34472379. S2CID 237389009.
- ^ Morales-Rosado JA, Schwab TL, et al. (2023-06-01). "Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy". American Journal of Human Genetics. 110 (6): 989–997. doi:10.1016/j.ajhg.2023.04.006. PMC 10257193. PMID 37167966.