Blog Archives

Myasthenia gravis is caused by the abnormal production of autoantibodies, frequently directed against elements of the acetylcholine receptor leading to a dysfunction of the neuromuscular junction. Its prevalence is estimated between 50 and 200 per million, or several thousand patients in France. In the 1960s, the treatment remission rate barely exceeded 10%. The mortality rate … [Read more]

Rare diseases are rare in terms of the number of affected individuals, but globally affect around 6% of the population. In more than 70% of cases, they are genetically determined. Their rarity leads to a late diagnosis, 25% of patients wait 5 to 30 years. It is therefore essential to draw the attention of patients … [Read more]

Necrotising autoimmune myopathy (or NAM) is a form of myositis without significant inflammation. Just recently reported, this condition is often considered to be related to the long-term oral use of statins. It involves a growing number of individuals of all ages, including children. The clinical picture is dominated by chronic myalgia, muscle deficit of varying … [Read more]

A Dutch study involves a cohort of 76 participants with DMD aged under 26, recruited by invitation via two patient associations, and compared with other data from the medical monitoring of more than 12,000 young people not affected by the disease. The authors have compiled data from early childhood developmental assessments obtained through clinical monitoring … [Read more]

Myopathies linked to the FLNC gene are highly varied in their expression. Initially described in the context of myofibrillar myopathies alone, these genetically determined neuromuscular diseases have an increasingly wide phenotype spectrum, especially since the application of high-throughput sequencing (NGS) to atypical clinical pictures with no molecular signature.
Thus, mutations in the FLNC gene, which codes … [Read more]

To assess the frequency of complex V defects, a team of French researchers including researchers from the Institute of Myology systematically sequenced the MT-ATP6 / 8 genes in 512 consecutive patients. They performed functional analysis in muscle or fibroblasts for 12 of the 27 putative homoplasmic mutations and in cybrids for 4 of them. Fibroblasts, … [Read more]

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]