Myology research highlights
RSS feedMuSK-related myasthenia prone to myotonic phenomena?
Myasthenia gravis with positive autoantibodies against the protein MuSK, a muscle-specific tyrosine kinase, is distinct from other forms of myasthenia gravis by the frequency of bulbar involvement. Electrophysiologically detectable myotonia could be a manifestation of this, as reported in two original observations: the first one concerns a 53-year-old patient with classic myasthenic symptoms and signs … [Read more]
Growing number of gene therapy approaches in CMT
According to 4 recent publications, gene therapy approaches in the demyelinating (CMT 4J) or intermediate (CMT X1) or axonal (CMT 2D) forms of Charcot-Marie-Tooth disease (CMT) help to target the Schwann cells, supplying them with gene therapy, and thus reducing peripheral nervous system involvement. American researchers have built a gene therapy product incorporating the FIG4 … [Read more]
A fourth gene involved in a form of oculo-pharyngo-distal myopathy, OPDM type 4
Chinese researchers have identified a new gene responsible for an ultra-rare form of oculo-pharyngo-distal myopathy. It joins three other genes, LRP12, GIPC1 and NOTCH2NLC, which have in common that they are linked to the same pathological nucleotide expansion of the CGG type. The RILPL1 gene: was identified through the study, by sequencing of long fragments, … [Read more]
An ENMC workshop on anesthesia in NMD
No less than 28 researchers or clinicians (including three French) and two patient representatives from 15 countries participated in the 259th workshop of the European Neuromuscular Center (ENMC). They exchanged between December 2020 and May 2021 around three themes: anesthetic management in various neuromuscular diseases (myasthenia gravis, congenital muscular dystrophies, channelopathies, etc.), with a review … [Read more]
LGMD R1: a study reports clinical and genetic data in Indian patients and confirms the characteristics usually described
• The retrospective study involves 72 participants (34 men and 38 women) with LGMD R1 (calpainopathy). • Patients have the following characteristics: the disease manifests between one and 35 years, on average around 13 years, nearly 40% of the participants had manifestations before the age of 12, 49% between the ages of 12 and 20, … [Read more]
One thousand patients were genetically diagnosed with FSH in China between 2001 and 2020
In two decades, the Center for Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD or FSH) in China (Fujian Neuromedical Centre) has collected and followed data from 997 patients with this myopathy and from 620 families. Their analysis shows that: on average, the number of D4Z4 repeat units is 5 (1 to 9 depending on the … [Read more]
SMA type 1: impairment of bulbar functions persists under nusinersen even though motor functions progress
The team from the London Neuromuscular Center studied the evolution of oral food intake capacities measured by the Pediatric Functional Oral Intake Scale (p-FOIS), in 24 children with spinal muscular atrophy linked to SMN1 ( SMA) type 1, on nusinersen for 2 years, from a median age of 11 months (1 month to 7.5 years). … [Read more]
Involvement of DNA from mitochondria proven in a family with scapulo-peroneal syndrome
For the first time, and thanks to a family with several affected people, Canadian and Finnish researchers have provided evidence of the involvement of mitochondrial DNA in a scapulo-peroneal syndrome: the initial diagnosis was that of an atypical Charcot-Marie-Tooth disease without molecular signature, an exhaustive high-throughput sequencing (NGS) study had previously eliminated any anomaly in … [Read more]
Not all SMCHD1 gene variants give an FSH-compatible phenotype
Distinct mutations of the SMCHD1 gene are responsible for a form of facioscapulohumeral myopathy (FSH type 2) but also for an ultra-rare syndrome comprising abnormalities of the olfactory system such as arhinia, nasal hypoplasia or anosmia. American researchers collected clinical and genetic data from eleven patients with the latter syndrome: only three had a genotype … [Read more]
Farnesol is effective in laboratory models of CMT1A
• Korean researchers studied the effects of farnesol in Charcot-Marie-Tooth disease type 1A (CMT1A): • They showed that the molecule enhances myelination of axons by Schwann cells: in a cellular model of CMT1A, it promotes the expression of myelin genes. in a mouse model of CMT1A, it increases the number and diameter of myelinated axons as … [Read more]
