Blog Archives
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
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]
Natural history of cardiac function in DMD and BMD on home mechanical ventilation
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]
Identification of novel pathogenic mutations in Polish LGMD patients
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]
Preliminary motor function data of nusinersen in type 1 SMA patients
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]
Age-related patterns of ambulatory function in SMA
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]
CHP1 reduction: A promising therapeutic target for combinatorial SMA therapy
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]
The Institute of Myology is seeking a Project manager (M/F)
The Institute of Myology is seeking a Project manager to assist with editing and managing research projects. Attached to the Strategic Project Coordinator of the Institute of Myology, the main role of the project manager will be to assist research teams when replying to national, European or international calls for tender, both in terms of … [Read more]
Clinical, morphological, and genetic aspects of protein aggregate myopathies
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]
Caregiver burden in DMD
This systematic literature review investigated caregiver burden in Duchenne muscular dystrophy (DMD). A total of 21 articles were included for data synthesis. Results encompassing more than 15 aspects of caregiver burden, investigated through surveys and/or interviews across 15 countries, were identified in the literature. Caregiving in DMD was frequently associated with impaired health-related quality … [Read more]
Efficacy of rituximab in refractory generalized anti-AChR Myasthenia Gravis
Several retrospective case series have suggested rituximab (RTX) might improve patients with refractory Myasthenia Gravis (MG). This study evaluated prospectively the efficacy of RTX on muscle function in patients with severe, refractory generalized anti-acetylcholine receptor (AChR) MG. Enrolled patients received 1 g of RTX at day 0, day 14, and 6-month follow-up (M6). The … [Read more]
