Myology research highlights

Dutch researchers have investigated innovative techniques for objectively and automatically assessing facial muscle deficits in patients with myasthenia gravis : data from 70 myasthenia patients were compared with data from a group of healthy subjects, the analysis was based on protocolised video recordings of facial movements to which two distinct methods were applied, one using … [Read more]

Italian researchers studied patients with amyotrophic lateral sclerosis (ALS) or Kennedy disease for one year to determine the prevalence of associated retinal anomalies: the clinical and paraclinical data of 30 patients with ALS and 37 with Kennedy disease were compiled and compared with a control group, the thickness of the peripapillary retinal nerve layer (pRNFL) … [Read more]

HAL® (Hybrid Assistive Limb) is a portable limb motor assistance device connected to the user via biofeedback based on cybernetic technologies and used in rehabilitation. It improved walking distance for two minutes, walking speed over 10 metres and muscle testing in 24 people with neuromuscular diseases taking part in a controlled cross-over trial between March … [Read more]

The results of the first of three parts of the DEVOTE trial evaluating higher doses of Spinraza® (nusinersen) have been published: this first part involved six patients with SMN1-related proximal spinal muscular atrophy (SMA), aged between 6 and 12 years, whose symptoms appeared after the age of 6 months and who were followed up for … [Read more]

A Chinese team has studied autophagic flow, which is involved in the formation of bordered vacuoles, in fibroblast cultures from people with GNE myopathy : autophagic flow is impaired; It is improved by metformin administration; the cellular protection of fibroblasts with GNE myopathy by metformin is independent of the AMPK-mTOR signalling pathway.   Metformin protects … [Read more]

With the advent of innovative therapies for SMA, the issue of bulbar disorders is becoming increasingly important. An international consortium of specialists has drawn up recommendations for standardised assessment of these impairments: 21 speech therapists, 11 physiotherapists, five neurologists, four occupational therapists and one dentist first made an inventory of existing tools and then made … [Read more]

Carried out in association with the American CMTA association, a systematic review of English-language articles shows that : vincristine and paclitaxel, two anti-cancer drugs, are likely to cause a rapid and severe worsening of CMT. They may be prescribed for the treatment of certain cancers, with careful monitoring of the development of neuropathic damage. The … [Read more]