Myology research highlights

Among the aetiologies of child and adult polyneuropathy, a distinction can be made between acquired and hereditary causes. Guillain–Barré syndrome (GBS) and chronic demyelinating inflammatory polyneuropathy (CIDP) are the most common acquired causes of this group of diseases, whereas Charcot-Marie-Tooth disease is the archetypal genetic cause. The latter is characterised by significant clinical and genetic … [Read more]

An Italian study carried out in 22 children with type I SMA, aged 3 to 11 years, without clear and understandable speech but able to communicate at least by yes and no, showed:  a median IQ of 120 on the Raven Progressive Matrix Multiple Choice Intelligence Test; a normal level of morphosyntactic comprehension on a … [Read more]

Sporadic inclusion myositis is an inflammatory myopathy. It causes slowly progressive and asymmetric muscle weakness and atrophy (quadriceps, flexors of the fingers, etc.), usually beginning after the age of 50. The usual treatments for other inflammatory myopathies (corticosteroids, immunosuppressants, etc.) have no effect in inclusion myositis, which would include a part of degenerative mechanisms.  No … [Read more]

Dysferlinopathies cover several clinical entities having as a common substratum a deficiency in dysferlin, a protein involved in the repair mechanisms of the membrane of the muscle fiber. Reduced initially to a Miyoshi-type distal myopathy, the phenotypic spectrum quickly extended to pure proximal forms (such as girdle muscular dystrophy or LGMD) and especially to combined … [Read more]

The majority of neuromuscular diseases are genetic and were for this reason considered incurable for a very long time. The arrival of innovative biotherapies is bringing about change, especially in spinal muscular atrophy. As a result, the question of neonatal screening for these diseases becomes even more acute. Treatments administered at a presymptomatic stage have … [Read more]

HDAC6 histone deacetylase regulates a collection of mechanisms that allow the cell to protect itself in the case of protein aggregate accumulation (via chaperone proteins, microtubules, etc.). Its inhibition is being studied in several neurodegenerative pathologies (Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, etc.).  Up to now, this approach has only been studied in axonal forms … [Read more]

Myasthenia gravis, a rare disease, goes hand-in-hand with the production of autoantibodies directed against one of the parts of the neuromuscular junction, most often the acetylcholine receptor (AChR) or the muscle-specific tyrosine kinase (MuSK) receptor. Patients with AChR antibodies and those with MuSK antibodies form two distinct subgroups with regard to their symptoms and their … [Read more]

If nemaline-myopathies are well known to pediatricians because they are most often neonatal revelation or in the first months of life, it is not the same in adults where a very small contingent of patients is affected by a non-hereditary form  of the disease, with late onset of delicate diagnosis. This form, also identifiable by … [Read more]

Myasthenia gravis is a neuromuscular immune mediated disease particularly common in adulthood. It is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction. it results in fluctuating paralysis with a strong ocular and bulbar tropism. MG treatment is both symptomatic, with acetylcholine esterase … [Read more]

The ANSM (French National Agency for Medicines and Health Products Safety) has just granted risdiplam (Evrysdi) Cohort Temporary Authorisation for Use for “patients aged 2 months and over with a clinical diagnosis of SMA type I, II or III in case of treatment failure, intolerance or inability to administer treatment with respect to available alternative … [Read more]