Congenital muscular dystrophies

Sparks, Susan; Escolar, Diana M.

doi:10.1016/b978-0-08-045031-5.00004-9

Cited by 23 publications

(13 citation statements)

References 243 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A full description of the clinical and genetic features is beyond the scope of this article, but the interested reader is referred to one of several recent reviews. 96,97 Alpha-Dystroglycanopathies…”

Section: The Congenital Muscular Dystrophiesmentioning

confidence: 99%

The Muscular Dystrophies

Flanigan

2012

Semin Neurol

View full text Add to dashboard Cite

The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset. Recent advances in the field include improved methods of diagnosis, continued identification of disease genes, and the development of a unified model of pathogenesis in facioscapulohumeral dystrophy. These advances are reflected in the development of new therapeutic approaches, some of which have already led to clinical trials in the dystrophinopathies and limb-girdle dystrophies.

show abstract

Section: The Congenital Muscular Dystrophiesmentioning

confidence: 99%

The Muscular Dystrophies

Flanigan

2012

Semin Neurol

View full text Add to dashboard Cite

show abstract

“…Muscular dystrophies (MDs) are a group of muscle diseases that affect the musculoskeletal system and locomotion [1][2][3][4][5]. MDs are characterized by defects in muscle proteins, determining progressive death of muscle cells and tissue [2,3].…”

Section: Mimicking Human Muscle Pathologymentioning

confidence: 99%

“…Both BMD and DMD patients can show different degrees of cognitive damage, indicating that brain function is compromised. In the last stage of disease progression, the regenerative capacity of the muscles is lost, and muscle fibres are gradually replaced by adipose and fibrous connective tissue [1][2][3][4][5][6][7][8][9][10][11][12][13].…”

Section: Mimicking Human Muscle Pathologymentioning

confidence: 99%

See 1 more Smart Citation

Mononucleated Cells to Regenerate Skeletal Muscle Syncytial Tissues

Ceccarelli¹

2012

J Stem Cell Res Ther

View full text Add to dashboard Cite

Skeletal muscle is one of the most plastic tissues of vertebrates since it may able upon exercises to double in size due to a physiological hypertrophy. Despite the fact that it is mainly a syncytial tissue, it contains a relevant number of mononucleated cells that can be involved in its homeostasis and repair. Although the mononuclear cell types with the highest myogenic potential are the satellite cells located underneath the basal lamina of muscle fibres, other interstitial cells have been shown to contribute to muscle regeneration.Adding complexity to this scenario is the fact that several authors revealed myogenic potential in pluripotent stem cells, which can be generated from patient somatic cells and eventually manipulated to correct the genetic defect.Notwithstanding the copiousness of myogenic cell types, their use in ex vivo cell therapies for muscular degenerative diseases is still questionable. However, new discovers on their biological properties have advanced our comprehension in handling myogenic stem cells significantly.In this review, we will focus on the myogenic potential of multi-and pluri-potent stem cells and their use in preclinical and clinical studies. New insights from direct reprogramming and epigenetic signalling to generate myogenic stem cells are also considered. Keywords: Stem cells; Skeletal muscle; Regenerative medicine Mimicking Human Muscle PathologyMuscular dystrophies (MDs) are a group of muscle diseases that affect the musculoskeletal system and locomotion [1][2][3][4][5]. MDs are characterized by defects in muscle proteins, determining progressive death of muscle cells and tissue [2,3]. There are several forms of MDs, including the Duchenne muscular dystrophy (DMD), the Becker muscular dystrophy (BMD) and some forms of limb-girdle muscular dystrophy (LGMD).DMD is the most severe syndrome and it is caused by mutations in the dystrophin gene located on the human X chromosome, with an inheritance pattern of 3 cases per 10000 live male births [5][6][7]. Satellite cells are localized underneath the basal lamina of terminally differentiated muscle fibres and in response to injury, they proliferate, fuse and give rise to regenerated muscle. Unfortunately, genetic mutations responsible for DMD are also present in satellite cells. Hence, the ability to restore normal muscle function remains obstructed. In DMD patients a small number of muscle fibres are able to produce functional dystrophin, mostly due to secondary mutations in myogenic precursor cells, which restore the reading frame [8,9]. However, these so-called revertant fibres are in a too small minority to alleviate the pathology of the dystrophin-deficiency. Exhaustion of the satellite cell pool due to degeneration and regeneration cycles is thought to critically contribute to the disease [10,11].BMD is also caused by mutations in the dystrophin gene, but myofibrils retain a truncated and low-active form of the dystrophin protein, consequently the symptoms appear with a later, and much slower rate of progression [12...

show abstract

“…Congenital MD (ICD-9-CM code: 359.0), in which hypotonia occurs at birth or during infancy, is mainly inherited in an autosomal recessive manner, with the exception of collagen VI-deficient and Lamin A/C gene (LMNA)-related types[2]. Progressive hereditary MD (ICD-9-CM code: 359.1) is composed of one type of X-linked recessive disorder that occurs in early childhood and another type known as limb-girdle MD that develops in early adulthood.…”

mentioning

confidence: 99%

Cancer risk among patients with hereditary muscular dystrophies: a population-based study in Taiwan, 1997-2009

Lin¹,

Li²

2014

Chin J Cancer

View full text Add to dashboard Cite

Muscular dystrophies (MD) comprise a heterogeneous group of hereditary myopathic diseases. In this group, myotonic MD is associated with an increased cancer risk. However, the cancer risk in other types of MD is unclear. To address this gap in knowledge, we assessed data obtained from the Taiwan Health Insurance Program database. A total of 1,272 patients with MD diagnosed between 1997 and 2009 were enrolled. They were followed up for cancer during the same period by record linkage with the cancer certification in Taiwan. Age- and sex-standardized incidence ratios (SIRs) of overall and site-specific cancers were calculated. For congenital and progressive hereditary MD, there were 685 and 505 cases (males: 69.5% and 80.6%), the median ages at diagnosis were 16 and 13 years, and the mean follow-up durations were 7.12 and 5.06 years, respectively. In addition, cancers were developed in 10 patients with congenital MD and 3 patients with progressive hereditary MD. Female MD patients exhibited an increased cancer risk, yielding an SIR of 3.37 [95% confidence interval (CI) = 1.38-8.25] in congenital MD and 2.95 (95% CI = 0.95-9.19) in hereditary progressive MD. Site-specific cancer SIRs were not powered to be significantly different. In conclusion, genetic defects in hereditary MD may increase cancer risks in females and a sex difference should be further investigated.

show abstract

Congenital muscular dystrophies

Cited by 23 publications

References 243 publications

The Muscular Dystrophies

The Muscular Dystrophies

Mononucleated Cells to Regenerate Skeletal Muscle Syncytial Tissues

Cancer risk among patients with hereditary muscular dystrophies: a population-based study in Taiwan, 1997-2009

Contact Info

Product

Resources

About