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About 258 results

ALLMedicine™ Dystrophinopathies Center

Research & Reviews  96 results

Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne...
https://doi.org/10.1002/ajmg.c.31993
American Journal of Medical Genetics. Part C, Seminars In... Armstrong N, Schrader R et. al.

Aug 6th, 2022 - Duchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disorder typically diagnosed between 4 and 5 years of age. DMD currently has five FDA approved therapies, which has led to increased interest in newborn screening (NBS) for DM...

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.
https://doi.org/10.1002/mgg3.2028
Molecular Genetics & Genomic Medicine; Zaum AK, Nanda I et. al.

Aug 2nd, 2022 - Dystrophinopathies caused by variants in the DMD gene are a well-studied muscle disease. The most common type of variant in DMD are large deletions. Very rarely reported forms of variants are chromosomal translocations, inversions and deep introni...

Large scale population screening for Duchenne muscular dystrophy-Predictable and unpred...
https://doi.org/10.1002/pd.6201
Prenatal Diagnosis; Cohen G, Shtorch-Asor A et. al.

Jun 26th, 2022 - Large deletions and duplications account for 65%-80% of pathogenic Duchenne muscular dystrophy (DMD) variants. A nationwide carrier screening for DMD was initiated in Israel in 2020. We assessed the carrier rate and spectrum of variants detected i...

Serum cardiac troponin I is a candidate biomarker for cardiomyopathy in Duchenne and Be...
https://doi.org/10.1002/mus.27522
Muscle & Nerve; Yamaguchi H, Awano H et. al.

Feb 18th, 2022 - Serum cardiac troponin I (cTnI), its relation to cardiomyopathy, and the contribution of the ACTN3 genotype to serum levels of cTnI in Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) remain unknown. In this study we aimed to rev...

Psychosocial adjustment in adults with Duchenne muscular dystrophy: A pilot study on a ...
https://doi.org/10.1016/j.nmd.2021.10.008
Neuromuscular Disorders : NMD; Weerkamp PMM, Collin P et. al.

Jan 25th, 2022 - The primary aim of this study was to describe the psychometric properties of an adult revision of the 28 item Personal Adjustment and Role Skills Scale (PARS-III). This scale was originally developed to assess psychosocial adjustment in children 4...

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Clinicaltrials.gov  6 results

Brain Involvement in Dystrophinopathies Part 2
https://clinicaltrials.gov/ct2/show/NCT04668716

Oct 6th, 2021 - Intellectual disability and neurobehavioural comorbidities affect at least 50% of the individuals with Duchenne muscular dystrophy (DMD) which, although a rare genetic disease, is the most common form of muscular dystrophy in childhood. Several st...

Brain Involvement in Dystrophinopathies Part 1
https://clinicaltrials.gov/ct2/show/NCT04583917

Sep 29th, 2021 - Intellectual disability and neurobehavioural comorbidities affect at least 50% of the individuals with Duchenne muscular dystrophy (DMD), which, although a rare genetic disease, is the most common form of muscular dystrophy in childhood. Several s...

Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital
https://clinicaltrials.gov/ct2/show/NCT05029232

Aug 31st, 2021 - Muscular dystrophies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and...

Acceptance and Commitment Therapy for Muscle Disease
https://clinicaltrials.gov/ct2/show/NCT02810028

Aug 22nd, 2019 - Previous research has shown that while QoL is determined by the severity of the MD, this does not explain all aspects of the reduced QoL of those with MD. Previous research suggested that a cognitive behavioural approach using Acceptance and Commi...

Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy (CICS)
https://clinicaltrials.gov/ct2/show/NCT02897921

May 21st, 2018 - Background: Many myopathies are inherited in a recessive manner, but in some of these recessively inherited disorders, clinical manifestations may potentially manifest in carriers of just a single mutation. This has recently been demonstrated by r...

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News  1 results

LVADs achieve cardiac palliation in muscular dystrophies
https://www.mdedge.com/chestphysician/article/133850/neuromuscular-disorders/lvads-achieve-cardiac-palliation-muscular
Richard Mark Kirkner, MDedge News

Mar 20th, 2017 - At one time, respiratory failure was the primary cause of death in young men and boys with muscular dystrophies, but since improvements in ventilator support have addressed this problem, cardiac complications such as cardiomyopathy have become the.

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