Myology research highlights
RSS feedAn axonal form of CMT is clinically similar to SMA
European researchers have identified thirty individuals with a rare form of axonal CMT disease with mutations in the NEFH gene, coding a neurofilament (CMT type 2CC). An analysis of the clinical and laboratory data shows that: the first impairments, essentially motor in nature, appear in the patients’ 30s, but progress quickly to a situation of … [Read more]
A recurrent mutation of the RYR1 gene is responsible for a congenital form of myopathy with benign progression
Although the usual mode of presentation of RYR1-related myopathies is that of congenital myopathy, the range of phenotypes related to pathogenic variants of this gene is constantly widening. A group of French clinicians and biologists have identified a group of 13 patients who are carriers of a recurrent mutation in the RYR1 gene. An analysis … [Read more]
LAMA2-related CMD: full body MRI of 27 patients shows consistent topography of brain and muscle impairments
Based on an analysis of images obtained from full body magnetic resonance imaging (MRI) of 27 patients with LAMA2-related congenital muscular dystrophy (CMD), aged 2 to 62 years, 6 of whom had never acquired the ability to walk, an international collaboration coordinated by the team at the Raymond-Poincaré Hospital (Garches) has identified that: the replacement … [Read more]
Japanese guidelines for the diagnosis and treatment of interstitial lung disease accompanying certain systemic diseases
The occurrence of interstitial lung disease in the progression of a systemic disease (also known by the term “connectivitis”) is a complication that is feared because of its potentially fatal outcome. Among the muscular diseases, this particularly applies to antisynthetase syndrome and to certain cases of dermatomyositis. A group of Japanese experts, consisting of internists, … [Read more]
An indwelling intrathecal catheter used experimentally in the US for nusinersen injections in SMA
The intrathecal administration of nusinersen (Spinraza) can prove problematic in patients with SMN1 gene-related proximal spinal muscular atrophy (SMA) due to spinal deformation that is either pre-existing or acquired during treatment. American clinicians have put in place, experimentally, a catheter linking the spinal canal to an implanted subcutaneous chamber, thus facilitating iterative injections of this … [Read more]
The STRIDE follow-up registry and a retrospective Swedish study provide new data regarding the effects of ataluren in DMD at over 5 years
• Ataluren, a medicine that targets DMD gene stop codon-type abnormalities, approved in Europe in Duchenne muscular dystrophy, is the subject of new results with respect to walking, upper limb mobility and breathing, based on real-life data from the STRIDE registry and a retrospective Swedish study • The results show that ataluren delays the loss … [Read more]
Eteplirsen acts long-term on respiratory function and walking in DMD
• A prospective and retrospective analysis of the effects of eteplirsen has been conducted over a total period of 7 years, via 3 successive clinical trials among 12 participants with DMD; the third trial involved 10 of these participants and was conducted in a real-life setting with routine clinical follow up. • The results showed: … [Read more]
The plectinopathies: a wide range of neuromuscular and non-neuromuscular phenotypes
Plectin is a large protein that stabilises the position of intermediate filaments inside the cell. An Austrian team has reviewed this protein’s involvement in the area of neuromuscular disease and beyond: mutations of the PLEC gene (that codes plectin) can be responsible for a type of limb-girdle muscular dystrophy (LGMD type R17), myasthenic syndrome, and/or … [Read more]
The diaphragm, a predictor of restrictive respiratory failure in DMD patients
Respiratory status is a key determinant of prognosis in patients with Duchenne muscular dystrophy (DMD), the most common myopathy in children. The disease results in progressive muscle deficit predominantly at the root of the limbs and is accompanied by cardio-respiratory complications. A French team involving researchers and clinicians from the Institute of Myology aimed to … [Read more]
The measured impact of Covid-19 in neuromuscular patients during the first French confinement
The French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) and patient associations, notably the AFM-Telethon, conducted a multicenter study during the first wave of the Covid-19 pandemic in France, from March 25, 2020 to May 11, 2020. The results reveal : a lower prevalence of Covid-19 in neuromuscular patients followed by the Filnemus network … [Read more]
