Myology research highlights
RSS feedHow to treat hypercholesterolemia in the context of Immune-mediated necrotizing myopathy?
Immune-mediated necrotizing myopathy (IMNM) is very often linked to the use, whether prolonged or not, of statins. These cholesterol-lowering molecules are prescribed to nearly one in four Americans. Chilean clinicians have studied the possible alternatives to this treatment to combat the underlying dyslipidemia: the researchers report the case of a 65-year-old patient treated for four … [Read more]
Atypical forms of inclusion myositis are not so exceptional
Inclusion myositis (or IBM for Inclusion body myositis) belongs to the group of inflammatory myopathies of autoimmune origin. US researchers from the Mayo Clinic compiled data from 357 patients diagnosed with IBM between 2015 and 2022 : 14% of patients had clinically atypical forms of the disease, These included isolated swallowing disorders (50%), isolated and … [Read more]
The value of myostatin measurement in the follow-up of inflammatory myopathies
Measuring the activity of an inflammatory pathology such as inclusion myositis or autoimmune necrotizing myopathy is not easy. Researchers at the Institute of Myology in Paris have investigated the hypothesis that the determination of myostatin, a muscle growth inhibitory factor, may be useful in this context: ELISA assays for myostatin and complementary measurement of the … [Read more]
How American families affected by Duchenne or Becker muscular dystrophy feel about newborn screening
In order to better understand the preferences of families regarding newborn screening, a questionnaire was completed by 66 families affected by Duchenne or Becker muscular dystrophy. The results showed that : the average age at diagnosis was four years, with the onset of symptoms at the age of 2.1 years, the first worrying manifestations were … [Read more]
DMD: positive results of Viltolarsen confirmed over two years
May 2020, the publication of the results of the phase II clinical trial of Viltolarsen, in 16 boys with DMD aged 4 to 9 years, shows that it induces a significant increase in the global level of dystrophin in the muscle, accompanied by a functional improvement after six months of treatment. In this double-blind, placebo-controlled … [Read more]
Brain dystrophin restoration improves memory in mdx mice
In a study published in May 2022, two French teams succeeded in partially restoring dystrophin in certain brain regions of adult mdx mice, an animal model of Duchenne muscular dystrophy, thereby improving certain cognitive functions affected in the disease. The researchers administered optimized tricyclo DNA antisense by intracerebroventricular injection to correct the reading frame of … [Read more]
A family observation of primary dysferlinopathy, an autosomal dominant genetic disorder
Until now, dysferlin deficiencies reported in human pathology have all been inherited in the autosomal recessive mode. A few heterozygous individuals have been reported with slightly elevated CPK blood levels. Australian and British researchers found a large family with autosomal dominant inheritance. There was no particular family consanguinity to explain possible pseudodominance. Genetic analysis found … [Read more]
A natural history study to better understand certain myopathies of mitochondrial origin
Italian researchers studied 117 patients with mitochondrial pathologies with muscle expression. Three groups were formed (purely muscular mitochondriopathy, progressive external ophthalmoplegia [PEO] and mixed) The follow-up was spread over 20 months and included the performance of numerous functional tests (six-minute walk test, Time Up & Go, sitting position test, timed swallowing test, chewing test, etc.) … [Read more]
The concept of ‘actionable’ genes applied to myopathies
A gene responsible for a given disease is said to be ‘actionable’ if it has direct or indirect therapeutic applications. This new concept in the genomic approach to hereditary diseases is of obvious interest to the patients themselves. A consortium of French geneticists sponsored by the FILNEMUS network has seized on the concept by applying … [Read more]
Should carpal tunnel or cubital tunnel syndrome in CMT 1A and HNPP neuropathy be operated on?
Nerve involvement in CMT 1A and HNPP neuropathy (tomacular or pressure palsy neuropathy) may increase the risk of carpal tunnel or cubital tunnel syndrome and complicate their management. A retrospective study of 112 patients from the Mayo Clinic (USA) showed : that the prevalences of carpal tunnel and cubital tunnel syndromes are increased compared to … [Read more]
