Myology research highlights

This study carried out in the Roma population of southern Spain describes the clinical, histological, radiological, and genetic features of a large series of BIN1 patients, in which a novel founder mutation in has been identified. Eighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had … [Read more]

Neuromyelitis optica (NMO), also known as Devic’s disease, is a central nervous system (CNS) autoimmune disease that preferentially affects the spinal cord and optic nerve. The disease is mediated by autoantibodies against aquaporin 4 (AQP4). Myasthenia gravis (MG) is a well-recognized disease affecting the neuromuscular junction, mediated by autoantibodies against the acetylcholine receptor (AChR). Recent … [Read more]

CRISPR/Cas9 is an attractive platform to potentially correct dominant genetic diseases by gene editing with unprecedented precision. In the current proof-of-principle study, the authors explored the use of CRISPR/Cas9 for gene-editing in myotonic dystrophy type-1 (DM1) by excising the CTG-repeat expansion in the 3′-untranslated-region (UTR) of the human myotonic dystrophy protein kinase (DMPK) gene in … [Read more]

Congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2) are two seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the SMCHD1 gene. The objective of this study was to determine whether these disorders might represent different ends of a broad single phenotypic spectrum associated with SMCHD1 dysfunction. Fourteen … [Read more]

Heart management in dystrophinopathies relies mainly on cardioprotective drugs including angiotensin converting enzyme (ACE) inhibitors, beta-blockers, and aldosterone antagonists. DMD patients exhibit simultaneously a restrictive respiratory failure, requiring long-term home mechanical ventilation (HMV), which may influence cardiac functionThis study analysed the natural history of cardiac function in patients with DMD and BMD (dystrophinopathies) on HMV. … [Read more]

Disease onset and progression of limb girdle muscular dystrophies (LGMD) are highly variable, with an elusive genetic background, and around 50% cases lacking molecular diagnosis. Here, the authors performed whole exome sequencing (WES) in 73 patients with clinically diagnosed LGMD. A filtering strategy aimed at identification of variants related to the disease included integrative analysis of … [Read more]

This study reports the six-month results of nusinersen use in 104 type 1 SMA patients, ranging from three months to 19 years, 9 months of age. After six months, an improvement of more than two points was found in 58 of the 104 (55.7%) on the CHOP INTEND and in 21 of the 104 (20.19%) … [Read more]

Individuals with the mildest spinal muscular atrophy (SMA) phenotype, type 3, are able to walk independently, but their residual weakness causes gait impairments and fatigue, and ultimately can result in loss of ambulation. This study aimed to examine longitudinal changes in the six-minute walk test (6MWT) beyond one year in a larger cohort of SMA … [Read more]

  Although the first spinal muscular atrophy (SMA) therapy based on antisense oligonucleotides correcting SMN2 splicing has recently been approved, in type I SMA-affected individuals-representing 60% of SMA patients-the elevated survival motor neuron (SMN) level may still be insufficient to restore motor neuron function permanently. Plastin 3 (PLS3) and neurocalcin delta (NCALD) are two SMN-independent … [Read more]

Protein aggregate myopathies (PAM) represent a group of familial or sporadic neuromuscular conditions with marked clinical and genetic heterogeneity that occur in children and adults. Familial PAM includes myofibrillar myopathies defined by the presence of desmin-positive protein aggregates and degenerative intermyofibrillar network changes. PAM is often caused by dysfunctional genes, such as DES, PLEC 1, … [Read more]