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

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356 relevant articles (5 outcomes, 17 trials/studies) found for this Disease

Description: 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:

Limb-Girdle Muscular Dystrophy; Muscular Dystrophy, Limb-Girdle; Muscular Dystrophies, Limb-Girdle; Limb Girdle Muscular Dystrophies; Limb Girdle Muscular Dystrophy; Muscular Dystrophies, Limb Girdle; Muscular Dystrophy, Limb Girdle

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 86

Muscular Diseases: 4370

Atrophic Muscular Disorders: 159

Muscular Dystrophies: 3079

Limb-Girdle Muscular Dystrophies: 356

Nervous System Diseases: 3628

Neuromuscular Diseases: 766

Muscular Diseases: 4370

Atrophic Muscular Disorders: 159

Muscular Dystrophies: 3079

Limb-Girdle Muscular Dystrophies: 356

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 448

Inborn Genetic Diseases: 577

Muscular Dystrophies: 3079

Limb-Girdle Muscular Dystrophies: 356

Related Diseases

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

Experts

1.	McNally, Elizabeth M: 3 articles (03/2008 - 06/2006)
2.	Muntoni, Francesco: 3 articles (01/2008 - 12/2003)
3.	Beckmann, J S: 3 articles (06/2001 - 12/2000)
4.	Gicquel, Evelyne: 2 articles (05/2008 - 02/2006)
5.	Suel, Laurence: 2 articles (05/2008 - 02/2006)
6.	Bartoli, Marc: 2 articles (05/2008 - 02/2006)
7.	Richard, Isabelle: 2 articles (05/2008 - 02/2006)
8.	Brockington, Martin: 2 articles (01/2008 - 12/2003)
9.	Torelli, Silvia: 2 articles (01/2008 - 12/2003)
10.	Longman, Cheryl: 2 articles (01/2008 - 12/2003)

Drugs and Biologics

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

1.	CalpainIBA 02/01/2006 - "Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A." 04/01/2005 - "We present here the clinical, molecular and biochemical findings from 238 limb-girdle muscular dystrophy type 2A (LGMD2A) patients, representing approximately 50% (238 out of 484) of the suspected calpainopathy cases referred for the molecular study of the calpain 3 (CAPN3) gene. " 05/01/1996 - "In a second branch of the family with a diagnosis of limb-girdle muscular dystrophy type 2A (LGMD2A) molecular studies revealed a homozygous 550 delta A mutation in the calcium-activated neutral protease 3 (calpain 3, CANP3) gene in the affected members. " 06/01/2009 - "Alterations of calpain 3 (p94), the muscle-specific isoform that contains three peculiar sequences (NS, IS1 and IS2), are strictly associated to the limb-girdle muscular dystrophy type 2A, in which a myonuclear apoptosis has been documented. " 04/21/2009 - "Loss-of-function mutations in calpain 3 have been shown to cause limb-girdle muscular dystrophy type 2A (LGMD2A), an autosomal recessive disorder that results in gradual wasting of the muscles of the hip and shoulder areas. " Order ALL the reference details at left...
2.	DystrophinIBA 02/10/2002 - "Both nNOS and dystrophin were expressed normally in the sarcolemma region of limb girdle muscular dystrophy (LGMD) patients. " 05/01/1997 - "Recently, linkage and candidate gene analyses have shown that some cases of limb-girdle muscular dystrophy can be caused by deficiency of other components of the dystrophin membrane cytoskeleton. " 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). " Order ALL the reference details at left...
3.	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." 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. " 10/01/2004 - "Loss of proteolytic function or change of other properties of this enzyme (such as stability or ability to interact with other muscular proteins) is manifested as limb girdle muscular dystrophy type 2A (LGMD2A, calpainopathy). " 08/01/2002 - "All the proteins known to be associated with limb-girdle muscular dystrophy were normal. " Order ALL the reference details at left...
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. " Order ALL the reference details at left...
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. " Order ALL the reference details at left...
6.	Sarcoglycans (beta Sarcoglycan)IBA 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. " 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. " 11/20/2009 - "Alpha sarcoglycan (alpha-SG) is highly expressed in differentiated striated muscle, and its disruption causes limb-girdle muscular dystrophy. " 09/01/2009 - "We identified a novel missense mutation in exon 6 (p.A131P) of the delta-sarcoglycan gene, which in a homozygous state leads to the clinical picture of a limb girdle muscular dystrophy. " 07/22/2008 - "BACKGROUND: Alpha-sarcoglycan (alpha-SG) deficiency (limb-girdle muscular dystrophy [LGMD] type 2D) is the most common form of sarcoglycan-LGMD. " Order ALL the reference details at left...
7.	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). " 07/01/2008 - "Loss of caveolin-3, resulting from dominant negative mutations of caveolin-3 causes autosomal dominant limb-girdle muscular dystrophy (LGMD) 1C and autosomal dominant rippling muscle disease (AD-RMD). " 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. " 09/10/2006 - "Caveolin-3 is a muscle-specific caveolin isoform that is deficient in limb girdle muscular dystrophy type 1 C (LGMD1C). " Order ALL the reference details at left...
8.	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. " 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." 03/01/2004 - "Mutations in genes encoding proteins of the human dystrophin-associated glycoprotein complex (DGC) cause the Duchenne, Becker and limb-girdle muscular dystrophies. " Order ALL the reference details at left...
9.	NF-kappa B (NF-kB)IBA 06/01/2001 - "Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle." 02/01/2007 - "Receptor for advanced glycation end products (RAGE) mediated by NF-kappaB activation is involved in proinflammatory pathomechanism and in muscle fiber regeneration in inflammatory myopathies and in limb girdle muscular dystrophy. " 09/01/2005 - "To determine whether engagement of RAGE contributes to the pathogenesis of inflammatory myopathies, we performed immunohistochemical studies on the presence of CML-modified proteins, RAGE and activated NF-kappaB in muscle biopsies of patients with polymyositis (PM, n=10), dermatomyositis (DM, n=10), limb girdle muscular dystrophy (LGMD, n=10) and in 10 controls with normal muscle biopsy results. " 05/01/2008 - "NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A." 05/01/1999 - "Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A." Order ALL the reference details at left...
10.	CalciumIBA 06/01/1999 - "Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C." 12/01/2005 - "The protein dysferlin, the product of the Limb Girdle Muscular Dystrophy type 2 locus, has been shown to be necessary for efficient, calcium-sensitive, membrane resealing. " 02/01/2007 - "Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive muscular disorder caused by mutations in the gene coding for calpain 3, a calcium-dependent protease. " 11/01/2006 - "Calpain 3 (CAPN3) is a calcium-dependent protease, mutations in which cause limb girdle muscular dystrophy type 2A. " 02/01/2006 - "Calpainopathy (limb-girdle muscular dystrophy type 2A, LGMD2A) is a recessive muscular disorder caused by deficiency in the calcium-dependent cysteine protease calpain 3. To date, no treatment exists for this disease. " Order ALL the reference details at left...

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. " Order ALL the reference details at left...
2.	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 - "CONCLUSION: 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]" Order ALL the reference details at left...
3.	Transplantation (Transplant Recipients) 11/15/2006 - "We previously reported significant morphological and functional amelioration of a mouse model of limb-girdle muscular dystrophy by transplantation of mesoangioblasts. " 02/01/2002 - "Two transplantation models were used: SCID mice transplanted with normal human myoblasts, and SJL mice, the mouse model for limb girdle muscular dystrophy type 2B and Miyoshi myopathy, transplanted with allogeneic primary mouse muscle cell cultures expressing the beta-galactosidase gene under control of a muscle promoter of Troponin I. FK506 immunosuppression was used in the non-compatible allogeneic model. " Order ALL the reference details at left...
4.	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. " Order ALL the reference details at left...
5.	Tracheostomy 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. " Order ALL the reference details at left...

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