Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)

A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).

Also Known As:

Networked: 504 relevant articles (5 outcomes, 24 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
2.	Emery-Dreifuss Muscular Dystrophy (X-Linked Emery-Dreifuss Muscular Dystrophy)
3.	Sarcoglycanopathies
4.	Body Weight (Weight, Body)
5.	Anoxia (Hypoxia)

Experts

1.	Nigro, Vincenzo: 11 articles (04/2015 - 11/2003)
2.	Bushby, Kate: 11 articles (04/2015 - 02/2005)
3.	Campbell, Kevin P: 10 articles (07/2015 - 11/2002)
4.	Angelini, Corrado: 10 articles (01/2012 - 11/2003)
5.	Straub, Volker: 9 articles (04/2015 - 03/2007)
6.	Barresi, Rita: 9 articles (04/2015 - 11/2002)
7.	McNally, Elizabeth M: 9 articles (04/2014 - 10/2005)
8.	Richard, Isabelle: 8 articles (07/2015 - 02/2009)
9.	Udd, Bjarne: 8 articles (07/2015 - 02/2007)
10.	Fanin, Marina: 8 articles (07/2014 - 11/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Limb-Girdle Muscular Dystrophies:

1.	DystrophinIBA 02/10/2002 - "Both nNOS and dystrophin were expressed normally in the sarcolemma region of limb girdle muscular dystrophy (LGMD) patients. " 03/01/1995 - "To better define limb-girdle muscular dystrophy (LGMD), we examined 58 patients clinically and pathologically who fulfilled the criteria for LGMD and had normal dystrophin expression in their muscle biopsies. " 06/01/1994 - "These isolated female dystrophinopathy patients carried ambiguous diagnoses with presumed autosomal recessive inheritance (limb-girdle muscular dystrophy) prior to biochemical detection of dystrophin abnormalities in their muscle biopsy. " 12/01/1991 - "In contrast, dystrophin was present in all 7 biopsies from patients with 4 other types of muscular dystrophy (limb-girdle, congenital, myotonic and facioscapulohumeral). " 01/01/1991 - "Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence."
2.	Proteins (Proteins, Gene)IBA 02/01/2004 - "We reviewed the different groups of proteins currently recognized as being involved in congenital and limb-girdle muscular dystrophies, associated them with the clinical phenotypes, and determined some clinical and molecular clues that are helpful in the diagnostic approach to these patients." 11/01/2015 - "Immunohistochemical staining for sarcolemmal proteins in muscle biopsy samples finally led to a diagnosis of limb-girdle muscular dystrophy 2I (fukutin-related protein gene mutations). " 09/01/2008 - "Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive degeneration of skeletal muscle caused by the absence of or defective muscular proteins. " 10/01/2007 - "Limb girdle muscular dystrophy (LGMD) describes a group of inherited diseases resulting from mutations in genes encoding proteins involved in maintaining skeletal muscle membrane stability. " 08/01/2002 - "All the proteins known to be associated with limb-girdle muscular dystrophy were normal. "
3.	Limb-girdle muscular dystrophy type 2AIBA 12/01/2015 - "Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. " 09/01/2014 - "Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. " 07/01/2009 - "Immunoblot is currently the preferred laboratory test to assist the diagnosis of limb-girdle muscular dystrophy (LGMD) 2A (calpainopathy). " 05/01/2009 - "Limb-girdle muscular dystrophy (LGMD) 2A (calpainopathy) is the most frequent form of LGMD in many European countries. " 06/01/2008 - "The Western blot technique is currently the standard detection method for suspected limb girdle muscular dystrophy (LGMD) 2A (calpainopathy). "
4.	dystrobrevinIBA 07/01/1997 - "Interestingly, dystrobrevin staining at the sarcolemma is dramatically reduced in patients with limb-girdle muscular dystrophy arising from the loss of one or all of the sarcoglycan components. " 03/01/2002 - "Dystrobrevin disappears from the muscle membrane in Duchenne muscular dystrophy (DMD), which results from dystrophin mutations, as well as in limb girdle muscular dystrophies (LGMD), which results from mutations affecting other members of the DGC complex. " 07/01/1997 - "Normal dystrobrevin staining is observed in patients with other forms of limb-girdle muscular dystrophy where dystrophin and the rest of the dystrophin-associated protein complex are normally expressed and in other neuromuscular disorders. "
5.	OxygenIBA 04/01/1999 - "Nasal administration of 0.2L/min oxygen to 2 Duchenne muscular dystrophy patients, and nasal intermittent positive pressure ventilation to 2 Duchenne muscular dystrophy patients, 1 Becker muscular dystrophy patient and 1 Limb-Girdle muscular dystrophy patient for 15-30 minutes before eating improved the prandial hypoxia and halted the progression of body weight loss. "
6.	Sarcoglycans (beta Sarcoglycan)IBA 01/01/2016 - "Mutations in the sarcoglycans induce limb girdle muscular dystrophy, and several animal models have been established to study the molecular biology and function of the sarcoglycan complex. " 01/01/2011 - "The aim of this study was to identify phenotypic differences among limb-girdle muscular dystrophy patients who were grouped according to the immunohistochemical phenotypes for the four sarcoglycans. " 07/01/2009 - "In this study, we show that Galgt2 overexpression reduces the development of dystrophic pathology in the skeletal muscles of mice lacking alpha sarcoglycan (Sgca), a mouse model for limb girdle muscular dystrophy 2D. " 05/01/2000 - "We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci of LGMD2A-F and protein studies using immunofluorescence and western blotting of the sarcoglycan complex. " 12/01/1998 - "After studies which have mapped the gamma-sarcoglycan deficient limb-girdle muscular dystrophy (LGMD2C) to chromosome 13q12 and recent identification of mutations within this gene, prenatal diagnosis has become possible. "
7.	CalpainIBA 01/09/2015 - "Mutations in the gene encoding the muscle-specific family member calpain 3 (CAPN3) underlie limb-girdle muscular dystrophy 2A. " 01/01/2013 - "Among the genes affected is Calpain 3, which is mutated in limb girdle muscular dystrophy, a disease phenotypically similar to FSHD. " 01/01/2012 - "Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutations in the CAPN3 gene and complete lack of functional calpain 3 leads to the most severe muscle wasting. " 01/01/2012 - "Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies." 09/01/2011 - "Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3."
8.	Caveolin 3IBA 01/15/2004 - "The current study characterized the biochemical and cardiac parameters of P104L mutant caveolin-3 transgenic mice, a model of an autosomal dominant limb-girdle muscular dystrophy (LGMD1C). " 08/01/2012 - "Skeletal muscle expressing Pro104Leu mutant caveolin 3 (CAV3(P104L)) in mouse becomes atrophied and serves as a model of autosomal dominant limb-girdle muscular dystrophy 1C. " 08/01/2011 - "Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy 1C (LGMD1C). " 05/01/2007 - "A deficiency in caveolin-3 (Cav-3), the major striated muscle isoform, is responsible for skeletal muscle disorders, such as limb-girdle muscular dystrophy 1C (LGMD 1C). " 11/01/2006 - "Dominant-negative mutations of the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy 1C (LGMD1C) with loss of caveolin-3. "
9.	Laminin (Merosin)IBA 10/01/1998 - "Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy." 04/01/1998 - "We have identified seven patients (including two sib pairs) with a predominantly late onset limb-girdle muscular dystrophy in whom an absence of merosin was noted on immunoblotting. " 12/01/1997 - "The expression of laminin 2 subunits has not been well studied in the skeletal muscle of limb-girdle muscular dystrophy (LGMD), nor has much attention been given to the significance of reduction of individual laminin 2 subunits, such as beta 1. To examine the expression of laminin 2 subunits in skeletal muscle in patients with LGMD and to define the clinical features of patients with LGMD who have abnormal expression of laminin 2 subunits. " 12/01/1997 - "Abnormal expression of laminin beta 1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy." 03/01/1997 - "Merosin status should be assessed in patients with late-onset limb girdle muscular dystrophy."
10.	Glycoproteins (Glycoprotein)IBA 03/15/1999 - "Sarcoglycanopathies (SGPs) constitute a subgroup of limb-girdle muscular dystrophies (LGMD), where the primary defect in one sarcoglycan (SG) glycoprotein (alpha-SG, beta-SG, gamma-SG or delta-SG) results in a deficiency of the whole complex. " 08/01/1994 - "Recent linkage studies showing association between various forms of LGMD and loci on chromosome 15, 13 and 5 respectively, and the demonstration of 50K dystrophin associated glycoprotein deficiency in some cases of LGMD, strongly support the notion that limb girdle muscular dystrophy constitutes a separate group of phenotypically and genotypically distinct disorders. " 07/01/2014 - "Mutation in Sgcd (sarcoglycan-δ), a subunit of dystrophin glycoprotein complex, causes LGMD2F (limb girdle muscular dystrophy 2F). " 02/01/2000 - "In humans, a subset of cases of Limb-girdle muscular dystrophy (LGMD) arise from mutations in the genes encoding one of the sarcoglycan (alpha, beta, gamma, or delta) subunits of the dystrophin-glycoprotein complex. " 09/22/2000 - "These results implicate an important function of the caveolin signature sequence and common mechanisms in the pathogenesis of dystrophin-glycoprotein complex-associated muscular dystrophies with caveolin-3-deficient limb girdle muscular dystrophy."

Therapies and Procedures

1.	Intermittent Positive-Pressure Ventilation 02/01/1992 - "[Application of nasal intermittent positive pressure ventilation to a case of limb-girdle muscular dystrophy]." 02/01/1992 - "We applied nocturnal ventilation (NV) with nasal intermittent positive pressure ventilation with custom molded mask (NIPPV-C Mclermott, 1989), as well as NV with tracheostomy intermittent positive pressure ventilation (TIPPV) to a male patient with limb-girdle muscular dystrophy who had developed chronic respiratory failure at the age of 47. " 04/01/1999 - "Nasal administration of 0.2L/min oxygen to 2 Duchenne muscular dystrophy patients, and nasal intermittent positive pressure ventilation to 2 Duchenne muscular dystrophy patients, 1 Becker muscular dystrophy patient and 1 Limb-Girdle muscular dystrophy patient for 15-30 minutes before eating improved the prandial hypoxia and halted the progression of body weight loss. "
2.	Resistance Training 06/01/2014 - "These results provide evidence that a combination of aerobic and strength training during anti-gravity has the potential to safely improve functional ability in severely affected patients with Becker and limb-girdle muscular dystrophies." 06/01/2014 - "We investigated the functional effects of combined aerobic and strength training in patients with Becker and limb-girdle muscular dystrophies with knee muscle strength levels as low as 3% of normal strength. " 02/01/2013 - "In this study we investigated the effect of strength training in patients with limb-girdle muscular dystrophy (LGMD) and Becker muscular dystrophy (BMD). "
3.	Cesarean Section (Caesarean Section) 10/01/2007 - "Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section." 09/01/1996 - "This case illustrates the use of epidural anaesthesia in the successful management of a severely compromised patient with limb-girdle muscular dystrophy undergoing elective Caesarean section." 12/01/2008 - "[Anesthesia for cesarean section in a patient with limb-girdle muscular dystrophy]." 01/01/2015 - "Limb-girdle muscular dystrophy with obesity for elective cesarean section: Anesthetic management and brief review of the literature."
4.	Laparoscopic Cholecystectomy 01/01/2011 - "Anaesthetic management of a patient with limb-girdle muscular dystrophy for laparoscopic cholecystectomy." 12/01/2013 - "Laparoscopic cholecystectomy under spinal anesthesia in a patient with limb-girdle muscular dystrophy."
5.	Heart Transplantation (Grafting, Heart) 04/01/1998 - "A 26 year old woman with a diagnosis of limb girdle muscular dystrophy and peripartum cardiomyopathy underwent orthotopic heart transplantation using standard atrial anastomoses. " 11/12/2009 - "Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation."