Blog Archives

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]

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]