Myology research highlights
RSS feedHow 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]
A new type of complication related to SMA gene therapy
Italian clinicians report the case of a three-year-old child with SMA type 1 who developed hemophagocytic lymphohistiocytosis (HLH) three days after an intravenous injection of onasemnogène aboparvovec (Zolgensma®). This rare immune complication was characterized by fever, skin rash, hepatosplenomegaly and biological disturbances (hypoplaketosis, leukopenia, increased LDH and D-dimer). The whole picture fulfilled the diagnostic criteria … [Read more]
Low levels of anti-AAV9 and not age-dependent in adults with SMA
German clinicians determined the level of anti-AAV9 antibodies in 69 adults with SMA type II and III. Using a threshold greater than 1/50 as an exclusion criterion for gene therapy trials in Zolgensma, they found: a low prevalence of this criterion in adults: only three patients (4.3%) have a rate greater than 1/50 ; a … [Read more]
A new lead in the treatment of MELAS syndrome
The MELAS syndrome is a mitochondrial disease with a partly neuromuscular expression and is related, in the vast majority of cases, to a point mutation (m.3243A>G) of the mitochondrial DNA. French specialists report laboratory work on a cellular model of the disease (cybrid cells with different levels of heteroplasmy of this mutant). A multi-omics approach … [Read more]
