Blog Archives

The ADSSL1 gene codes for an enzyme that helps to convert inosine monophosphate (IMP) into adenosine monophosphate (AMP), which in turn is a metabolite needed to produce ATP. ADDSL1 is an enzyme specific to skeletal muscle, where it is highly expressed. This disease is common in Korea, but is not exclusive to that country.
Myopathy related … [Read more]

Facioscapulohumeral myopathy (FSH) is characterized by progressive involvement of the muscles of the face and the shoulder girdle, then the muscle of the legs and trunk. FSH1, (95% of cases) due to a decrease in the number of repeats of a D4Z4 sequence, located on chromosome 4, is different from FSH2 (5% of cases), linked … [Read more]

Myasthenia gravis causes, after physical exertion, fatigability of the striated muscles, sometimes only of the eye (ptosis and diplopia). The results found, in the majority of patients, autoantibodies directed against the neuromuscular junction, for example anti-RACh and anti-MuSK, which are the most commonly found. Their absence (double seronegative myasthenia gravis) complicates the diagnosis. An indicator … [Read more]

In GNE myopathy, standard MRI shows the progression of fatty infiltration into the muscles of the lower limbs, which relatively spares the quadriceps. The quantitative MRI (qIRM) allows to refine the observation. It detects more subtle muscle changes early on and makes it possible to measure the affected areas, the percentages of fat, water … … [Read more]

The World Duchenne Awareness Day takes place on September 7th, 2020! After many years of research, hopes for treatments become reality, specifically for Duchenne Muscular Dystrophy, one of Telethon’s most emblematic diseases, which was at the root of parents’ fight and of the creation of AFM-Telethon by the association’s pioneers. A gene therapy trial, stemming … [Read more]

Idiopathic myositis, or inflammatory myopathies, are autoimmune diseases manifested by different symptoms depending on their type (dermatomyositis, inclusion myositis, etc.). All of them may be accompanied by dysphagia, which is sometimes the only symptom of myositis or its inaugural symptom. Swallowing disorders are also part of the classification criteria for myositis published in 2017. However, … [Read more]

French researchers from the National Reference Centre for Rare Peripheral Neuropathies in Limoges have developed a new approach to create motor neuron cell cultures from iPS cells generated from a skin sample in two patients with CMT linked to GDAP1 and 5 healthy subjects. Morphological, immunocytological and electrophysiological analyzes show that these cultured motor neurons … [Read more]

Mexiletine is a sodium channel blocker indicated in France for the symptomatic treatment of myotonic syndromes (myotonic dystrophies and non-dystrophic myotonias or channelopathies). The Summary of Product Characteristics, however, recalls that mexiletine has anti-arrhythmic properties and “may cause the occurrence of an arrhythmia or worsen a pre-existing arrhythmia diagnosed or not” requiring the establishment of … [Read more]

Spinal muscular atrophy (SMA) is currently classified into 5 different subtypes, from most severe (type 0) to the mildest (type 4) depending on the age of onset of the disease, the best motor function achieved and the number of copies of the SMN2 gene. Two recently approved treatments for SMA patients have revolutionized patients’ quality … [Read more]

The arrival of immune checkpoints inhibitors (ICI) in oncology has been a real revolution for treating cancers that until then had reached a therapeutic impasse. Aside from their effectiveness in boosting the anti-tumor action of the immune system, ICIs also promote the onset of autoimmune pathologies, for example inflammatory myopathies (myositis). A large-scale analysis A … [Read more]