Myotonic dystrophy type 1

Nguyen, Cuong; Campbell, Craig

doi:10.1503/cmaj.151384

Cited by 10 publications

(10 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Whether ageing is intrinsic to the cells or is a reflection of the cellular response to the ageing environment is under debate. (Seow et al, 2012;reviewed in Overby et al, 2018); Mexiletine (Nguyen and Campbell, 2016); adding muscleblind-like protein 1 (reviewed in Konieczny et al, 2017…”

Section: Satellite Cell Defects In Muscular Dystrophiesmentioning

confidence: 99%

Skeletal muscle in health and disease

Morgan

Partridge

2020

Disease Models &Amp; Mechanisms

View full text Add to dashboard Cite

Skeletal muscle fibres are multinucleated cells that contain postmitotic nuclei (i.e. they are no longer able to divide) and perform muscle contraction. They are formed by fusion of muscle precursor cells, and grow into elongating myofibres by the addition of further precursor cells, called satellite cells, which are also responsible for regeneration following injury. Skeletal muscle regeneration occurs in most muscular dystrophies in response to necrosis of muscle fibres. However, the complex environment within dystrophic skeletal muscle, which includes inflammatory cells, fibroblasts and fibro-adipogenic cells, together with the genetic background of the in vivo model and the muscle being studied, complicates the interpretation of laboratory studies on muscular dystrophies. Many genes are expressed in satellite cells and in other tissues, which makes it difficult to determine the molecular cause of various types of muscular dystrophies. Here, and in the accompanying poster, we discuss our current knowledge of the cellular mechanisms that govern the growth and regeneration of skeletal muscle, and highlight the defects in satellite cell function that give rise to muscular dystrophies.

show abstract

Section: Satellite Cell Defects In Muscular Dystrophiesmentioning

confidence: 99%

Skeletal muscle in health and disease

Morgan

Partridge

2020

Disease Models &Amp; Mechanisms

View full text Add to dashboard Cite

show abstract

“…2 There is an unmet need for evidence-based outcomes in individuals with DM1 3,4 as disease-modifying clinical trials are emerging. 5 Validity and reliability of muscle strength, balance, and functional mobility outcomes have recently been established in DM1, 6 but knowledge about responsiveness is lacking, which hampers the possibility to design and pick appropriate endpoints for interventional trials. Responsiveness is a tool's ability to detect change in a condition over time.…”

Section: Introductionmentioning

confidence: 99%

Responsiveness of outcome measures in myotonic dystrophy type 1

Knak

Sheikh

Witting

et al. 2020

Ann Clin Transl Neurol

View full text Add to dashboard Cite

Objective As myotonic dystrophy type 1(DM1) evolves slowly and interventional trials often have a short duration, responsive outcomes in DM1 are needed. The objective of this study was to determine the responsiveness of muscle strength, balance, and functional mobility measurements after a 1‐year follow‐up period in individuals with DM1. Methods Sixty‐three adults with noncongenital DM1 completed the following assessments at baseline and at 1‐year follow‐up: Handheld dynamometry (lower limbs), stationary dynamometry (lower limbs), step test, timed‐up‐and‐go test (TUG), modified clinical test of sensory integration and balance (mCTSIB), feet‐together stance, tandem stance, one‐leg stance, 10‐meter walk test, and sit‐to‐stand test. Results Change was captured by stationary dynamometry (proximal flexor and extensor muscles), handheld dynamometry (proximal flexor and distal extensor muscles), TUG, and mCTSIB (P ≤ 0.04). Ceiling or floor effects were shown for most static balance tests. Interpretation Overall, adequate responsiveness was shown for both muscle strength dynamometers, TUG and mCTSIB. These outcomes are therefore likely candidate endpoints for clinical trials lasting 1 year. Most static balance tests are not responsive and not recommended in a heterogeneous DM1 population.

show abstract

“…The common causes are neonatal sepsis and central nervous system depression. Congenital myotonic dystrophy type I is characterized by hypotonia and severe generalized weakness at birth, often accompanied by respiratory insufficiency, developmental delay, and early death [ 79 , 80 ]. Additionally, a lot of muscular and neurological diseases are characterized by neonatal hypotonia, including some spinal muscular atrophy.…”

Section: Diagnosismentioning

confidence: 99%

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China

Dai

Fei-Hong²,

Zhang³

et al. 2022

Orphanet J Rare Dis

View full text Add to dashboard Cite

Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical manifestations of PWS vary with age. It is characterized by severe hypotonia with poor suck and feeding difficulties in the early infancy, followed by overeating in late infancy or early childhood and progressive development of morbid obesity unless the diet is externally controlled. Compared to Western PWS patients, Chinese patients have a higher ratio of deletion type. Although some rare disease networks, including PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Zhejiang Expert Group for PWS, were established recently, misdiagnosis, missed diagnosis and inappropriate intervention were usually noted in China. Therefore, there is an urgent need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy. Our purpose is to evaluate the current literature and evidences on diagnosis and management of PWS in order to provide evidence-based guidelines for this disease, specially from China.

show abstract

Myotonic dystrophy type 1

Cited by 10 publications

References 7 publications

Skeletal muscle in health and disease

Skeletal muscle in health and disease

Responsiveness of outcome measures in myotonic dystrophy type 1

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China

Contact Info

Product

Resources

About