Blog Archives
Combination therapy with nusinersen and AVXS-101 in SMA type 1
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by progressive degeneration of spinal cord and brainstem motor neurons caused by homozygous deletions in the survival motor neuron (SMN1) gene resulting in loss of SMN protein. Two children with SMA type 1 received, for the first time, these two innovative treatments, which work with … [Read more]
Effect of flavonoid and omega 3 supplementation in DMD, FSHD and LGMD
Nutritional compounds can exert both anti-inflammatory and anti-oxidant effects. Since these events exacerbate the pathophysiology of muscular dystrophies, the authors investigated nutraceutical supplementation as an adjuvant therapy in dystrophic patients, to low costs and easy route of administration. Moreover, this treatment could represent an alternative therapeutic strategy for dystrophic patients who do not respond to … [Read more]
VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes
Very rare polymorphisms in the human VRK1 (vaccinia-related kinase 1) gene have been identified in complex neuromotor phenotypes associated to spinal muscular atrophy (SMA), pontocerebellar hypoplasia (PCH), microcephaly, amyotrophic lateral sclerosis (ALS) and distal motor neuron dysfunctions. The mechanisms by which these VRK1 variant proteins contribute to the pathogenesis of these neurological syndromes are unknown. … [Read more]
The NIH Toolbox for cognitive surveillance in DMD
The authors performed a prospective, cross-sectional cognitive assessment in subjects with Duchenne Muscular Dystrophy (DMD) and their biological mothers. Thirty subjects with out-of-frame mutations in the dystrophin (DMD) gene, and 25 biological mothers were evaluated using the National Institutes of Health Toolbox Cognition Battery (NIHTB-CB). A parent completed the Behavior Rating Inventory of Executive Functioning … [Read more]
Instruments for the assessment of behavioral and psychosocial functioning in DMD and BMD; a systematic review of the literature
This systematic review aims to provide an overview of instruments used to assess behavioral and psychosocial functioning of patients with Duchenne and Becker muscular dystrophy, as well as to review the psychometric properties and applicability of these instruments. Five databases (Embase, Psyc.info, ERIC, Pubmed/Medline, and Cochrane) were searched from inception to June, 2018. Potential articles … [Read more]
Scapular dyskinesis in DM1: clinical characteristics and genetic investigations
The objective here was to study scapular winging or other forms of scapular dyskinesis (condition of alteration of the normal position and motion of the scapula) in myotonic dystrophy type 1 (DM1), which is generally considered to be a distal myopathy, we performed an observational cohort study. A team of researchers from The Netherlands and … [Read more]
CaVβ1, a promising protein to prevent sarcopenia
Deciphering the mechanisms that govern skeletal muscle plasticity is essential to understanding its pathophysiological processes, including age-related sarcopenia, which results in a progressive, generalized loss of muscle mass, strength, and quality. The consequences are numerous: increased risk of falls, length of stay in hospital, infectious risks … The CaV1.1 voltage-gated calcium channel plays a central … [Read more]
Patient-reported symptoms in FSHD
The purpose of the study was to determine the frequency and relative importance of the most meaningful symptoms in facioscapulohumeral muscular dystrophy (FSHD) and to identify the demographic and clinical features that are associated with the greatest disease burden in this population. The authors performed a cross-sectional study involving 328 participants with FSHD. Collectively, participants … [Read more]
Genetics of idiopathic inflammatory myopathies: insights into disease pathogenesis
The purpose of this study was to review the advances that have been made in our understanding of the genetics of idiopathic inflammatory myopathies (IIM) in the past 2 years, with a particular focus on dermatomyositis and polymyositis. Fine-mapping studies in the major histocompatibility complex region in Caucasian and Korean populations have identified novel human … [Read more]
Longitudinal reliability of outcome measures in patients with DMD
The definition of reliable outcome measures is of increasing interest in patients with Duchenne muscular dystrophy (DMD). In this retrospective study, the authors analyzed the longitudinal reliability of clinical and radiological endpoints in 29 ambulant patients with DMD. Clinical outcome measures included motor function measure (MFM) and timed function tests, while quantitative MRI data were … [Read more]
