Blog Archives

Myasthenic crisis can induce Takotsubo cardiomyopathy leading to transient systolic and diastolic left ventricular dysfunction and wall-motion abnormalities, including the characteristic apical ballooning. The authors aimed to define the clinical features of this disease entity. A systematic review was conducted to examine the characteristics of Takotsubo cardiomyopathy presenting in myasthenia gravis patients. Case reports were … [Read more]

Current outcomes in neuromuscular disorder clinical trials include motor function scales, timed tests, and strength measures performed by trained clinical evaluators. These measures are slightly subjective and are performed during a visit to a clinic or hospital and constitute therefore a point assessment. Point assessments can be influenced by daily patient condition or factors such … [Read more]

Spinal muscular atrophy (SMA) is a neurodegenerative disease associated with severe muscle atrophy and weakness in the limbs and trunk. The authors report interim efficacy and safety outcomes as of March 29, 2019 in 25 children with genetically diagnosed SMA who first received nusinersen in infancy while presymptomatic in the ongoing Phase 2, multisite, open-label, … [Read more]

This study amied to define the clinical phenotype of dermatomyositis (DM) with anti-Mi2 autoantibodies. In this longitudinal cohort study, the prevalence and severity of clinical features at disease onset and during follow-up in patients with anti-Mi2-positive DM were compared to patients with anti-Mi2-negative DM, antisynthetase syndrome (AS), and immune-mediated necrotizing myopathy (IMNM). Longitudinal anti-Mi2 autoantibody … [Read more]

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]

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]

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 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]

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]