muscular dystrophies

Summary

Summary: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.

Top Publications

  1. Lesault P, Theret M, Magnan M, Cuvellier S, Niu Y, Gherardi R, et al. Macrophages improve survival, proliferation and migration of engrafted myogenic precursor cells into MDX skeletal muscle. PLoS ONE. 2012;7:e46698 pubmed publisher
  2. Abdel Hamid H, Clemens P. Pharmacological therapies for muscular dystrophies. Curr Opin Neurol. 2012;25:604-8 pubmed publisher
    The study reviews recent advances in pharmacological management of muscular dystrophies. Similarities and differences among the pathophysiology of different forms of muscular dystrophy lead to a broad array of approaches to provide new ..
  3. Maguire K, Lim L, Speedy S, Rando T. Assessment of disease activity in muscular dystrophies by noninvasive imaging. J Clin Invest. 2013;123:2298-305 pubmed publisher
    b>Muscular dystrophies are a class of disorders that cause progressive muscle wasting. A major hurdle for discovering treatments for the muscular dystrophies is a lack of reliable assays to monitor disease progression in animal models...
  4. Doe J, Wuebbles R, Allred E, Rooney J, Elorza M, Burkin D. Transgenic overexpression of the ?7 integrin reduces muscle pathology and improves viability in the dy(W) mouse model of merosin-deficient congenital muscular dystrophy type 1A. J Cell Sci. 2011;124:2287-97 pubmed publisher
  5. Groh W. Arrhythmias in the muscular dystrophies. Heart Rhythm. 2012;9:1890-5 pubmed publisher
    The muscular dystrophies are a group of inherited diseases affecting skeletal muscle that also affect cardiac muscle. Cardiac involvement occurs as a degenerative process with fibrosis and fatty replacement of the myocardium...
  6. Mercuri E, Muntoni F. Muscular dystrophies. Lancet. 2013;381:845-60 pubmed
    b>Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy...
  7. Stevens E, Carss K, Cirak S, Foley A, Torelli S, Willer T, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of ?-dystroglycan. Am J Hum Genet. 2013;92:354-65 pubmed publisher
    ..and other extracellular matrix ligands and is responsible for the pathogenesis of an inherited subset of muscular dystrophies known as the dystroglycanopathies...
  8. Messina S, Bruno C, Moroni I, Pegoraro E, D Amico A, Biancheri R, et al. Congenital muscular dystrophies with cognitive impairment. A population study. Neurology. 2010;75:898-903 pubmed publisher
    Cognitive impairment has been reported in a significant proportion of patients with congenital muscular dystrophies (CMD), generally associated with brain changes.
  9. Gibbs E, Horstick E, Dowling J. Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies. FEBS J. 2013;280:4187-97 pubmed publisher
    ..generation sequencing technology has spurred an unprecedented era of gene discovery for both myopathies and muscular dystrophies. Gene-based therapies for Duchenne muscular dystrophy have entered clinical trial, and several pathway-..

More Information

Publications62

  1. Gupta V, Kawahara G, Gundry S, Chen A, Lencer W, Zhou Y, et al. The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet. 2011;20:1712-25 pubmed publisher
  2. Salani S, Donadoni C, Rizzo F, Bresolin N, Comi G, Corti S. Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies. J Cell Mol Med. 2012;16:1353-64 pubmed publisher
    b>Muscular dystrophies (MDs) are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness likely associated with exhaustion of muscle regeneration potential...
  3. Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi Y, et al. Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy. Hum Mol Genet. 2011;20:3841-51 pubmed publisher
    ..These findings provide a first evidence for a pathomechanistic link between de novo PC biosynthesis and mitochondrial abnormality...
  4. Serrano A, Mann C, Vidal B, Ardite E, Perdiguero E, Munoz Canoves P. Cellular and molecular mechanisms regulating fibrosis in skeletal muscle repair and disease. Curr Top Dev Biol. 2011;96:167-201 pubmed publisher
    ..This review explores our current understanding of the cellular and molecular mechanisms underlying efficient muscle repair that are dysregulated in muscular dystrophy-associated fibrosis and in aging-related muscle dysfunction...
  5. Sparks S, Escolar D. Congenital muscular dystrophies. Handb Clin Neurol. 2011;101:47-79 pubmed publisher
    Congenital muscular dystrophies (CMDs) are a heterogeneous group of disorders characterized by muscle weakness from birth, or shortly after, and variable clinical manifestations of the eye and central nervous system...
  6. Amato A, Griggs R. Overview of the muscular dystrophies. Handb Clin Neurol. 2011;101:1-9 pubmed publisher
    The muscular dystrophies are a clinically and genetically heterogeneous group of myopathies typically associated with progressive weakness. Weakness may be noted at birth or develop in late adult life...
  7. Liu J, Milner D, Boppart M, Ross R, Kaufman S. ?1D chain increases ?7?1 integrin and laminin and protects against sarcolemmal damage in mdx mice. Hum Mol Genet. 2012;21:1592-603 pubmed publisher
    ..Thus manipulation of ?1D integrin expression offers a novel approach to enhance integrin-mediated therapy for muscular dystrophy...
  8. Stuckey D, Carr C, Camelliti P, Tyler D, Davies K, Clarke K. In vivo MRI characterization of progressive cardiac dysfunction in the mdx mouse model of muscular dystrophy. PLoS ONE. 2012;7:e28569 pubmed publisher
    ..These techniques offer a sensitive and clinically relevant in vivo method for assessment of cardiomyopathy caused by muscular dystrophy and other diseases. ..
  9. Consalvi S, Saccone V, Giordani L, Minetti G, Mozzetta C, Puri P. Histone deacetylase inhibitors in the treatment of muscular dystrophies: epigenetic drugs for genetic diseases. Mol Med. 2011;17:457-65 pubmed publisher
    ..inflammatory diseases and degenerative disorders, but also in the treatment of genetic diseases, such as muscular dystrophies. The ability of HDACi to counter the progression of muscular dystrophies points to HDACs as a crucial link ..
  10. Rooney J, Knapp J, Hodges B, Wuebbles R, Burkin D. Laminin-111 protein therapy reduces muscle pathology and improves viability of a mouse model of merosin-deficient congenital muscular dystrophy. Am J Pathol. 2012;180:1593-602 pubmed publisher
    ..Our results demonstrate that laminin-111 can serve as an effective protein substitution therapy for the treatment of muscular dystrophy in the dy(W-/-) mouse model and establish the potential for its use in the treatment of MDC1A...
  11. Pane M, Messina S, Vasco G, Foley A, Morandi L, Pegoraro E, et al. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord. 2012;22:685-9 pubmed publisher
    ..study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (?-DG)...
  12. Nastase M, Young M, Schaefer L. Biglycan: a multivalent proteoglycan providing structure and signals. J Histochem Cytochem. 2012;60:963-75 pubmed publisher
    ..The potential of biglycan as a novel therapeutic target or agent for the treatment of inflammatory diseases and skeletal muscular dystrophies is also addressed.
  13. Ruegg M, Glass D. Molecular mechanisms and treatment options for muscle wasting diseases. Annu Rev Pharmacol Toxicol. 2011;51:373-95 pubmed publisher
    Loss of muscle mass can be the consequence of pathological changes, as observed in muscular dystrophies; or it can be secondary to cachexia-inducing diseases that cause muscle atrophy, such as cancer, heart disease, or chronic obstructive ..
  14. Kim J, Jimenez Mallebrera C, Foley A, Fernandez Fuente M, Brown S, Torelli S, et al. Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. Neuromuscul Disord. 2012;22:139-48 pubmed publisher
    ..Flow cytometry analysis provides an alternative method for screening for collagen VI deficiency at the protein level in a quantitative, time and cost-effective manner...
  15. Cirak S, Foley A, Herrmann R, Willer T, Yau S, Stevens E, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013;136:269-81 pubmed publisher
    ..diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy...
  16. Wilschut K, Ling V, Bernstein H. Concise review: stem cell therapy for muscular dystrophies. Stem Cells Transl Med. 2012;1:833-42 pubmed publisher
    ..Here, we review the current state of research on myogenic stem cells and identify the important challenges that must be addressed as stem cell therapy is brought to the clinic...
  17. Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, et al. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012;72:550-8 pubmed publisher
    ..There was clinical evidence of a muscular dystrophy-dystroglycanopathy syndrome, supported by deficient O-mannosylation by muscle immunohistochemistry...
  18. Mikami T, Koyama S, Yabuta Y, Kitagawa H. Chondroitin sulfate is a crucial determinant for skeletal muscle development/regeneration and improvement of muscular dystrophies. J Biol Chem. 2012;287:38531-42 pubmed publisher
    ..Our data suggest that the control of CS abundance is a promising new therapeutic approach for the treatment of skeletal muscle injury and progressive muscular dystrophies.
  19. Bönnemann C, Wang C, Quijano Roy S, Deconinck N, Bertini E, Ferreiro A, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord. 2014;24:289-311 pubmed publisher
    Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process...
  20. Grumati P, Coletto L, Sandri M, Bonaldo P. Autophagy induction rescues muscular dystrophy. Autophagy. 2011;7:426-8 pubmed publisher
    ..Reactivation of the autophagic flux by either nutritional approaches or by pharmacological and genetics tools removes dysfunctional organelles and greatly ameliorates the dystrophic phenotype...
  21. Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Bertaggia E, et al. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med. 2010;16:1313-20 pubmed publisher
    ..Defects of this degradative system have a role in various diseases, but little is known about autophagy in muscular dystrophies. We have previously found that muscular dystrophies linked to collagen VI deficiency show dysfunctional ..
  22. Wang C, BONNEMANN C, Rutkowski A, Sejersen T, Bellini J, Battista V, et al. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010;25:1559-81 pubmed publisher
    Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes...
  23. Negroni E, Vallese D, Vilquin J, Butler Browne G, Mouly V, Trollet C. Current advances in cell therapy strategies for muscular dystrophies. Expert Opin Biol Ther. 2011;11:157-76 pubmed publisher
    b>Muscular dystrophies are a heterogeneous group of genetic diseases characterized by muscle weakness, wasting and degeneration...
  24. Stalnaker S, Aoki K, Lim J, Porterfield M, Liu M, Satz J, et al. Glycomic analyses of mouse models of congenital muscular dystrophy. J Biol Chem. 2011;286:21180-90 pubmed publisher
    Dystroglycanopathies are a subset of congenital muscular dystrophies wherein ?-dystroglycan (?-DG) is hypoglycosylated...
  25. Lin Y, White R, Torelli S, Cirak S, Muntoni F, Stemple D. Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Hum Mol Genet. 2011;20:1763-75 pubmed publisher
    ..in putative glycosyltransferase genes, fukutin and fukutin-related protein (fkrp), lead to a wide range of muscular dystrophies associated with hypoglycosylation of ?-dystroglycan, commonly referred to as dystroglycanopathies...
  26. Selcen D. Myofibrillar myopathies. Neuromuscul Disord. 2011;21:161-71 pubmed publisher
    Myofibrillar myopathies represent a group of muscular dystrophies with a similar morphologic phenotype...
  27. Bernardi P, Bonaldo P. Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. Cold Spring Harb Perspect Biol. 2013;5:a011387 pubmed publisher
  28. Verhaert D, Richards K, Rafael Fortney J, Raman S. Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging. 2011;4:67-76 pubmed publisher
  29. Clarke N, Maugenre S, Vandebrouck A, Urtizberea J, Willer T, Peat R, et al. Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene. Eur J Hum Genet. 2011;19:452-7 pubmed publisher
    ..The exact function of LARGE, a golgi protein, remains uncertain. POMT and POMGnT enzyme activities were normal in patients' lymphoblast cells, suggesting that defects in LARGE do not affect the initiation of O-mannosyl glycans...
  30. Foley A, Hu Y, Zou Y, Yang M, Medne L, Leach M, et al. Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol. 2011;69:206-11 pubmed publisher
    ..Our findings have important implications for the genetic evaluation of patients with collagen VI-related myopathies as well as for potential therapeutic interventions for this patient population...
  31. Schüller A, Wenninger S, Strigl Pill N, Schoser B. Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C Semin Med Genet. 2012;160C:80-8 pubmed publisher
    ..Whether patients presenting with the different symptom patterns respond differently to enzyme replacement therapy remains a key question for future research. © 2012 Wiley Periodicals, Inc...
  32. Kumar A, Yamauchi J, Girgenrath T, Girgenrath M. Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A. Hum Mol Genet. 2011;20:2333-43 pubmed publisher
    ..Our results demonstrate that IGF-1 has a promising therapeutic potential in the treatment of MDC1A...
  33. Mizuno H, Nakamura A, Aoki Y, Ito N, Kishi S, Yamamoto K, et al. Identification of muscle-specific microRNAs in serum of muscular dystrophy animal models: promising novel blood-based markers for muscular dystrophy. PLoS ONE. 2011;6:e18388 pubmed publisher
    ..Interestingly, unlike CK levels, expression levels of these miRNAs in mdx serum are little influenced by exercise using treadmill. These results suggest that serum miRNAs are useful and reliable biomarkers for muscular dystrophy...
  34. Uezumi A, Ito T, Morikawa D, Shimizu N, Yoneda T, Segawa M, et al. Fibrosis and adipogenesis originate from a common mesenchymal progenitor in skeletal muscle. J Cell Sci. 2011;124:3654-64 pubmed publisher
    Accumulation of adipocytes and collagen type-I-producing cells (fibrosis) is observed in muscular dystrophies. The origin of these cells had been largely unknown, but recently we identified mesenchymal progenitors positive for platelet-..
  35. Bönnemann C. The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. Handb Clin Neurol. 2011;101:81-96 pubmed publisher
    ..A genetic spectrum is emerging, with BM being caused mostly by dominantly acting mutations, although rarely recessive inheritance of BM is also possible, whereas both dominantly as well as recessively acting mutations underlie UCMD. ..
  36. Muntoni F, Torelli S, Wells D, Brown S. Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol. 2011;24:437-42 pubmed publisher
    ..This review discusses the recent novel discovery of additional dystroglycanopathy variants and progress in dystroglycanopathy animal models...
  37. Vallese D, Negroni E, Duguez S, Ferry A, Trollet C, Aamiri A, et al. The Rag2?Il2rb?Dmd? mouse: a novel dystrophic and immunodeficient model to assess innovating therapeutic strategies for muscular dystrophies. Mol Ther. 2013;21:1950-7 pubmed publisher
    The development of innovative therapeutic strategies for muscular dystrophies, particularly cell-based approaches, is still a developing field...
  38. Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, et al. Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype. Neuromuscul Disord. 2013;23:549-56 pubmed publisher
    ..CHKB activity was reduced in all three patients and complex 1 activity was significantly reduced in one patient...
  39. Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, et al. Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. Oxid Med Cell Longev. 2011;2011:139194 pubmed publisher
    ..These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised...
  40. Stalnaker S, Stuart R, Wells L. Mammalian O-mannosylation: unsolved questions of structure/function. Curr Opin Struct Biol. 2011;21:603-9 pubmed publisher
    ..Furthermore, mutations in the enzymes of this pathway are causal for a variety of congenital muscular dystrophies. Here we highlight the protein substrates, glycan structures, and enzymes involved in O-mannosylation as ..
  41. Marrone A, Kucherenko M, Rishko V, Shcherbata H. New dystrophin/dystroglycan interactors control neuron behavior in Drosophila eye. BMC Neurosci. 2011;12:93 pubmed publisher
    ..Since the function of the DGC in the brain and nervous system has not been fully defined, we have here continued to analyze the DGC modifiers' function in the developing Drosophila brain and eye...
  42. Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, et al. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet. 2011;88:845-851 pubmed publisher
    ..We identified the human disease caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the pivotal role of phosphatidylcholine in muscle and brain...
  43. Schmidt W, Uddin M, Dysek S, Moser Thier K, Pirker C, Hoger H, et al. DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies. PLoS Genet. 2011;7:e1002042 pubmed publisher
    Albeit genetically highly heterogeneous, muscular dystrophies (MDs) share a convergent pathology leading to muscle wasting accompanied by proliferation of fibrous and fatty tissue, suggesting a common MD-pathomechanism...
  44. Kallestad K, Hebert S, McDonald A, Daniel M, Cu S, McLoon L. Sparing of extraocular muscle in aging and muscular dystrophies: a myogenic precursor cell hypothesis. Exp Cell Res. 2011;317:873-85 pubmed publisher
    ..These data support our hypothesis that the EOM may be spared in aging and in muscular dystrophies due to a subpopulation of mpcs, the EOMCD34 cells, that are retained in significantly higher percentages in ..
  45. Meng J, Muntoni F, Morgan J. Stem cells to treat muscular dystrophies - where are we?. Neuromuscul Disord. 2011;21:4-12 pubmed publisher
    The muscular dystrophies are inherited disorders characterised by progressive muscle wasting and weakness. Stem cell therapy is considered to be one of the most promising strategies for treating muscular dystrophies...
  46. Mercuri E, Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol. 2012;72:9-17 pubmed publisher
    Congenital muscular dystrophies are a highly heterogeneous group of conditions...
  47. Creus K, De Paepe B, Weis J, De Bleecker J. The multifaceted character of lymphotoxin ? in inflammatory myopathies and muscular dystrophies. Neuromuscul Disord. 2012;22:712-9 pubmed publisher
    ..Normal-appearing myofibres in inflammatory myopathies and muscular dystrophies express LT? possibly reflecting early myofibre damage, representing a hitherto undescribed pathologic ..
  48. Clement E, Feng L, Mein R, Sewry C, Robb S, Manzur A, et al. Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008. Neuromuscul Disord. 2012;22:522-7 pubmed publisher
    ..In this large study on CMD the diagnostic outcomes compared favourably with other CMD population studies, indicating the importance of an integrated clinical and pathological assessment of this group of patients...
  49. D Angelo M, Gandossini S, Martinelli Boneschi F, Sciorati C, Bonato S, Brighina E, et al. Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: evidence from a safety study with pilot efficacy measures in adult dystrophic patients. Pharmacol Res. 2012;65:472-9 pubmed publisher
    ..Systemic administration of ibuprofen and isosorbide dinitrate provides an adequate safety margin for clinical studies aimed at assessing efficacy...
  50. Terrill J, Radley Crabb H, Iwasaki T, Lemckert F, Arthur P, Grounds M. Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies. FEBS J. 2013;280:4149-64 pubmed publisher
    The muscular dystrophies comprise more than 30 clinical disorders that are characterized by progressive skeletal muscle wasting and degeneration...
  51. Sabatelli P, Palma E, Angelin A, Squarzoni S, Urciuolo A, Pellegrini C, et al. Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies. J Cell Physiol. 2012;227:2927-35 pubmed publisher
  52. Mitsuhashi S, Nishino I. Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase ?. Curr Opin Neurol. 2013;26:536-43 pubmed publisher
    ..This review will summarize clinicopathological features, genetic cause, and biochemical abnormalities of the disease, trying to decipher the mechanism of this complex disorder...
  53. Sabatelli P, Gara S, Grumati P, Urciuolo A, Gualandi F, Curci R, et al. Expression of the collagen VI ?5 and ?6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. J Invest Dermatol. 2011;131:99-107 pubmed publisher