Myology research highlights

Charcot-Marie-Tooth disease type 2A (CMT 2A) is one of the most common axonal forms of CMT. It is characterized by great clinical heterogeneity (age of onset of symptoms, severity of the condition, existence of visual, hearing impairment, etc.) and genetic (many abnormalities in the MFN2 gene identified, dominant and recessive transmission possible).  The Inherited Neuropathy … [Read more]

Type 1A Charcot-Marie-Tooth disease is the most common form of CMT. It is due to a duplication of the PMP22 gene causing overexpression of the PMP22 protein which accumulates in Schwann cells, which disrupts the myelin sheath and slows the transmission of nerve impulses.  French researchers have developed a new approach with a small interfering … [Read more]

Intermediate outcomes of the phase I / II gene therapy trial with SRP-9003 (scAAVrh74.MHCK7.hSGCB) in children with LGMDR4 linked to β-sarcoglycan (ex-LGMD2E), aged 4 to 13 years, were announced at the annual conference of MDA, the American Muscular Dystrophies Association. This 3-year, single-injection, intravenous infusion safety trial of SRP-9003 tested the tolerance of a first … [Read more]

SMA, that had no long-term treatment so far, has experienced an unprecedented therapeutic revolution in recent years: an antisense oligonucleotide (nusinersen or Spinraza®), a gene therapy product (onasemnogene abeparvovec or Zolgensma ®) and now an oral treatment, risdiplam (Evrysdi ™), now constitutes an innovative therapeutic arsenal for patients with SMA.  In fact, the European Commission … [Read more]

In myasthenia gravis, autoantibodies against the neuromuscular junction cause fluctuating muscle weakness accentuated by exertion. They can cross the placental barrier and lead to transient neonatal myasthenia gravis, with a life-threatening risk of respiratory failure for the baby. This possibility justifies systematic hospital surveillance of newborns born to mothers with myasthenia gravis, for a period … [Read more]

SMA is one of the most common neuromuscular diseases in children. It is transmitted in an autosomal recessive manner, and causes paralysis of variable severity that can lead to death at an early age. A distinction is made between four types (I to IV), depending on the age of onset of the symptoms and the … [Read more]

Risdiplam (or Evrysdi®) is a small drug molecule administered orally that corrects SMN2 gene splicing, thus producing the missing SMN1 protein in SMN1-related proximal spinal muscular atrophy (SMA). It has had marketing authorisation in the United States since August 2020. Following this, it received marketing authorisation in Brazil, Chile, South Korea, Georgia, Russia and Ukraine. … [Read more]

Sporadic inclusion body myositis was identified in the 1990s and its onset usually occurs after the age of 50 years. It is one of the inflammatory myopathies, but stands out because of its resistance to immunosuppressants. Arguments that would tend to favour diagnosis of this condition include the presence of quadriceps and finger flexor muscle … [Read more]

Dysphagia, which is common and yet still poorly recognised in myopathy, affects both children and adults, and occurs both at the start of the disease and at a later stage. Specifically, it affects the first stages of swallowing, and therefore voluntary muscle activity of the mouth, pharynx and upper oesophageal sphincter. It manifests via different … [Read more]

  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 … [Read more]