Myology research highlights

Hereditary Charcot-Marie-Tooth disease (CMT) type sensorimotor neuropathies are clinically and genetically heterogeneous diseases. They are relatively common in the general population, and result in motor deficit in the extremities varying in severity and speed of progression, combined with sensory disorders that are rarely prominent. Almost 100 genes, of autosomal dominant or recessive inheritance or X-linked … [Read more]

DM1 is a relatively common genetic disease inherited in an autosomal dominant mode. There are several types of DM1 depending on the age of onset: from the congenital form to pauci-symptomatic forms discovered late in adulthood. The muscles, heart, lens, central nervous system and endocrine glands are target organs in this multi-system disease. Respiratory complications … [Read more]

Oculopharyngodistal myopathy (OPDM) is a very rare form of myopathy with a late onset, the clinical phenotype of which shares certain traits with oculopharyngeal muscular dystrophy (OPMD). First described in Japan, OPDM has a higher prevalence in Asia than in the rest of the world. The molecular cause was an enigma until 2019, but has … [Read more]

Tamoxifen is an anti-oestrogen used to treat certain forms of cancer, such as breast cancer. Its anti-inflammatory and anti-fibrotic properties have led research teams to consider it as a therapeutic avenue to be explored in Duchenne muscular dystrophy (DMD). In mdx mice modelling DMD, tamoxifen treatment has led to an improvement in muscle strength and … [Read more]

SMA is a degenerative motor neuron disease causing paralysis of varying occurrence and intensity. It is classified into four types, type I, of early onset in infants being the largest group.  In the last few years, innovative therapies arrived on the market including nusinersen (or Spinraza®), a product based on antisense oligonucleotides. A few cases … [Read more]

Charcot-Marie-Tooth (or CMT) type hereditary sensory-motor neuropathies are clinically and genetically heterogeneous pathologies affecting all ages and all sexes. Relatively frequent in the general population, they have in common that they result in a variable scalability deficit in the muscles of limbs extremities (hands, feet) and sometimes very discreet sensory disorders. More than 80 genes … [Read more]

SMA is a degenerative disease of the lower motor neurons, responsible for paralysis of varying severity. A distinction is made between four types (I to IV) depending on the age of onset of the deficit and the maximum motor ability achieved by the patient. In the large majority of cases, one identifies, in the patient, … [Read more]

Duchenne muscular dystrophy (DMD) is the most common myopathy in children. It results in a progressive muscle deficit predominantly at the root of the limbs and is accompanied by cardio-respiratory complications leading to death at an early age. According to an old dogma and based only on a few scientific studies in animals, physical exercise … [Read more]

The neuromuscular diseases consist of a group of pathologies that are heterogeneous, both clinically and aetiologically. The element they have in common is involvement of a constituent part of a motor unit. The boundary between purely myopathic disease and neuropathy is sometimes blurred, as demonstrated by the work of an international consortium of researchers in … [Read more]

The paramyotonia congenita belongs to non-dystrophic myotonic syndromes. It is characterized by myotonia which paradoxically worsens during exercise and which can, if necessary, be disabling, especially in cold weather conditions. In the very large majority of cases, it is related to dominant mutations in the SNC4A gene encoding a voltage-gated sodium channel. Treatment remains symptomatic … [Read more]