Myology research highlights
RSS feedSenolytic molecules improve the behaviour of muscle stem cells in DM1
In DM1, muscle stem cells adopt the characteristics of senescent cells, including the secretion of senescence-associated secretory phenotype (SASP). A Canadian team showed that : serum levels of certain SASPs (including interleukin 6) are correlated with muscle weakness and functional limitations. administration of a senolytic product inhibiting BCL-XL leads to the death of senescent myoblasts … [Read more]
Infantile myasthenia remains ocular and usually evolves favourably
A retrospective study of 859 patients followed by a Shanghai hospital for Myasthenia gravis diagnosed before the age of 14 found : an ocular form in 97.8% of cases, which only generalized in 14% of patients; 21.7% were in stable complete remission, 15.3% in pharmaceutical remission, and 42% of patients had achieved minimal manifestation status … [Read more]
Tofacitinib effective on dermatomyositis skin lesions, but not really on muscle
A Canadian team conducted a single-center study of 41 people with refractory myositis treated with tofacitinib after failure of four to five immunosuppressants: 23 had classical dermatomyositis, 12 an amyopathic form and 6 polymyositis; tofacitinib produced statistically and clinically significant skin improvement in the dermatomyositis group, but had no significant effect on muscle in all … [Read more]
A large series of patients with VCP gene-related myopathy studied with muscle imaging
An international consortium of clinicians coordinated by the Barcelona Neuromuscular Center has published the results of the analysis of nuclear magnetic resonance (MRI) images acquired in patients with VCP myopathy, a myopathy characterized by inclusion bodies and, inconstantly, Paget’s disease and/or fronto-temporal dementia : the images of 80 patients from the large international cohort of … [Read more]
Successful heart transplant in a child with congenital titinopathy
Swiss and British researchers report the case of a 13-year-old adolescent who required a heart transplant at the age of 5: he initially presented with neonatal hypotonia and respiratory disorders attributed to congenital myopathy unrelated to the MTM1 and RYR1 genes, Severe restrictive cardiomyopathy appeared from the age of 3, and led to the suggestion … [Read more]
Biomarkers to monitor treated SMAs
Three separate groups of researchers have published the results of their work on biomarkers present in the cerebrospinal fluid (CSF) of patients with SMA, and their relevance to innovative therapies: Italian scientists have identified changes in protein profiles in the CSF of ten type III SMA patients treated for two years with nusinersen, a Romanian … [Read more]
Clinical biomarkers of gait quality and fall risk in late-onset Pompe disease
Compared with 20 healthy controls, the gait pattern and locomotion performance of 18 people with late-onset Pompe disease were found to be significantly impaired. Hip abductor strength is the main determinant of locomotor performance, gait stability and pelvic stability. Hip flexor strength is critical for knee and hip kinetics during gait. The duration of unipodal … [Read more]
Muscle imaging can show lesions in periodic paralysis
Periodic paralysis (PP) is an ultra-rare muscle channelopathy characterized by episodes of transient, sometimes prolonged, motor deficits. British researchers conducted a muscle imaging study of the lower limbs of 45 patients diagnosed with PP: 17 patients had a mutation in a calcium channel gene, 16 in a sodium channel gene and 12 in a potassium … [Read more]
An unusual case of dermatomyositis with muscle hypertrophy and neuromyotonia
Texas clinicians report the highly atypical case of a 65-year-old patient initially diagnosed with dermatomyositis on the basis of classic disease criteria: the initial picture consisted of a muscle deficit that appeared a few weeks after a rash on the face, the work-up revealed hyperCKemia at 4,000 IU/l, positive autoantibodies to Mi2, inflammatory infiltrates and … [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]
