Congenital muscular dystrophy
RSS feedA new gene, HMGCS1, causes stiff spine syndrome
An international consortium has reported the discovery of a new gene responsible for rigid spine syndrome (RSS): several families with an RSS phenotype but no mutation in the SELENON gene have been studied, either in whole exome or whole genome, bi-allelic variants of the HMGCS1 gene were identified in five patients from four unrelated families, … [Read more]
Advances in congenital muscular dystrophies – June 2024
Apparent at birth or in the first few months of life, congenital muscular dystrophies (CMD) are a group of very diverse, rare diseases characterised by progressive muscle weakness in the trunk and limbs. They may also affect other organs such as the heart, brain and eyes. Common symptoms are muscle weakness with hypotonia causing impaired … [Read more]
The results of the evaluation of omigapil in congenital muscular dystrophies have been published
CALLISTO was a phase I trial designed to assess the safety, tolerability and pharmacokinetics of omigapil for 12 weeks in 20 children with congenital muscular dystrophy (CMD) linked to COL6 or LAMA2. The results of the study published this year showed good safety and a favourable pharmacokinetic profile of the product in these children. However, … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Respiratory function in two CMDs is better understood
A natural history study carried out over one and a half years in 11 people with SELENON-related congenital muscular dystrophy (CMD) and 26 with LAMA2 revealed respiratory impairment in both diseases. Respiratory function is more impaired in SELENON-related CMD than in LAMA2-related CMD, with more frequent mechanical ventilation and more severe diaphragm dysfunction. Spirometry and … [Read more]
Neuromuscular diseases in developing countries: increasing genetic data from under-represented populations
While most (86%) published genetic data on neuromuscular diseases comes from populations of European ancestry, the majority of affected families live in low- to middle-income countries. In 2019, a transcontinental collaboration (Africa, South America, Asia and Europe) began, with the aim of rebalancing the proportion of genetic data from under-represented populations. Four years after the … [Read more]
Description of an Iranian cohort of patients with megaconium myopathy
Megaconial myopathy is an ultra-rare neuromuscular disease caused by recessive mutations in the CHKB gene encoding an enzyme involved in lipid transport. Researchers report the clinical and biological data of 13 patients diagnosed in Iran in recent years: the 13 patients came from 11 consanguineous families, The phenotype invariably combined motor disorders of varying intensity, … [Read more]
Description of a Dutch cohort of patients with LAMA2-related muscular dystrophy
Pathological variants in the LAMA2 gene encoding merosine cause very early onset muscular dystrophy (CMD), but not always (then they are clinical pictures of limb-girdle myopathy). Dutch clinicians report the clinical and biological data of 27 patients: Twelve had a very early onset but survived into adulthood, The median age of this single-centre cohort was … [Read more]
Chimeric proteins improve peripheral neuropathy in the mouse model of CMD 1A
While the expression of artificial binding proteins specifically in muscle tissue improves the dystrophic phenotype and compensates for LAMA2 deficiency in DMC 1A mouse models, it can also accentuate peripheral neuropathy and cause paralysis of the animal’s hind limbs. A study by researchers at the Biozentrum in Switzerland shows that inducing pantissular expression of two … [Read more]
A European study clarifies the cardiac phenotype of children with muscular laminopathy
European neuropaediatricians and cardiologists have compiled the clinical and paraclinical data, in particular cardiac data, of a large cohort of 28 children with various phenotypes of laminopathy: 13 presented with an Emery-Dreifuss type phenotype, 11 with LMNA-related congenital muscular dystrophy (L-CMD), two with limb-girdle muscular dystrophy and two with moderate muscular deficiency, During follow-up, six … [Read more]
