ALLMedicine™ Dystrophinopathies Center

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...

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...

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...

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...

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...

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...

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...

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...

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...

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...

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.