limb-girdle muscular dystrophy; Erb's muscular dystrophy
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Introduction
Heterogeneous group of diseases characterized by progressive weakness of pelvic & shoulder girdle muscles.
Pathology
muscle biopsy (see specific type)
Genetics
Clinical manifestations
- high clinical variability severity of the disease depends on age at onset may vary from early to late childhood or even adulthood
- progressive weakness of the pelvic & shoulder girdle muscles
Laboratory
- elevated serum creatine kinase
More general terms
More specific terms
- limb-girdle muscular dystrophy type 1A (LGMD1A)
- limb-girdle muscular dystrophy type 1B (LGMD1B)
- limb-girdle muscular dystrophy type 1C (LGMD1C)
- limb-girdle muscular dystrophy type 2A (LGMD2A)
- limb-girdle muscular dystrophy type 2B (LGMD2B)
- limb-girdle muscular dystrophy type 2C (LGMD2C)
- limb-girdle muscular dystrophy type 2D (LGMD2D)
- limb-girdle muscular dystrophy type 2E (LGMD2E)
- limb-girdle muscular dystrophy type 2F (LGMD2F)
- limb-girdle muscular dystrophy type 2G (LGMD2G)
- limb-girdle muscular dystrophy type 2H; muscular dystrophy Hutterite type (LGMD2H)
- limb-girdle muscular dystrophy type 2I (LGMD2I)
- limb-girdle muscular dystrophy type 2J (LGMD2J)
- limb-girdle muscular dystrophy type 2N; muscular dystrophy-dystroglycanopathy limb-girdle type C2 (LGMD2N)
- limb-girdle muscular dystrophy type 2S (LGMD2S)
- muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4)
- severe childhood autosomal recessive muscular dystrophy chromosome 17 locus
References
- ↑ Guglieri M, Straub V, Bushby K, Lochmuller H. Limb-girdle muscular dystrophies. Curr Opin Neurol. 2008 Oct;21(5):576-84. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18769252
- ↑ Straub V, Bushby K. The childhood limb-girdle muscular dystrophies. Semin Pediatr Neurol. 2006 Jun;13(2):104-14. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/17027860
- ↑ Angelini C. Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms. Acta Myol. 2004 Dec;23(3):130-6. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/15938568
- ↑ Laval SH, Bushby KM. Limb-girdle muscular dystrophies--from genetics to molecular pathology. Neuropathol Appl Neurobiol. 2004 Apr;30(2):91-105. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/15043707
- ↑ Mathews KD, Moore SA. Limb-girdle muscular dystrophy. Curr Neurol Neurosci Rep. 2003 Jan;3(1):78-85. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/12507416
- ↑ Piccolo F, Moore SA, Mathews KD, Campbell KP. Limb-girdle muscular dystrophies. Adv Neurol. 2002;88:273-91. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11908231
- ↑ Zatz M, Vainzof M, Passos-Bueno MR. Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes. Curr Opin Neurol. 2000 Oct;13(5):511-7. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11073356
- ↑ Bushby KM. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet. 1999;8(10):1875-82. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/10469840