Blog Archives

SMA is the second most common neuromuscular disorder in children. There are 4 types (from I to IV) depending on the age of onset of symptoms and the maximum functional abilities reached. SMA is the cause of paralysis, often progressing to respiratory failure and severe orthopedic deformities. The recent arrival of two innovative treatments based on … [Read more]

Myasthenia gravis, a disease of the neuromuscular junction, can be accompanied by respiratory difficulties (dyspnoea, congestion, ineffective cough …) whose occurrence over a few days, associated with a rapid motor deterioration, leads to the diagnosis myasthenic crisis. This exacerbation of the disease constitutes a vital emergency, which requires hospitalization in intensive care. An easy and … [Read more]

The concept of canalopathy covers a large number of genetic diseases linked to dysfunctions of ion channels of various kinds. Some of these canalopathies have a muscular and / or cardiac phenotype such as Andersen-Tawil syndrome (ATS1). This rare and little-known neuromuscular disease is transmitted as an autosomal dominant inherited disease. It is linked to … [Read more]

Identified in 2009, the anti-MDA5 autoantibodies are considered to be specific for dermatomyositis, a rare autoimmune disease which can cause skin, muscle and / or lung damage (interstitial lung disease). A large observational study conducted between 2011 and 2017 in 37 French hospitals included 83 patients with anti-MDA5 autoantibodies, compared to 190 patients with myositis … [Read more]

Myotonic dystrophy type 1 (DM1) is a genetic disease transmitted according to an autosomal dominant mode, with a multisystemic phenotypic expression. Muscles, heart, lens, central nervous system and endocrine glands are target organs. The risk of type 2 diabetes in particular is much higher in patients with DM1 than in the general population. French work … [Read more]

In a letter to the editor published in May 2020, a Japanese team reports their experience of treatment with nusinersen of the oldest patient treated to date. This 71-year-old female patient has SMA type 4. She has a deletion in the SMN1 gene and 4 copies of the SMN2 gene. Her first motor problems appeared … [Read more]

Facio-scapulo-humeral muscular dystrophy (FSH) is characterized by a relaxation of chromatin as well as a decrease (hypomethylation) of DNA in the D4Z4 region of chromosome 4, causing the expression of the DUX4 gene which codes for the eponymous transcription factor. Two forms of FSH: type 1 FSH (in 95% of cases) linked to a decrease … [Read more]