Blog Archives
Dosing for IgG and especially IgG2 anti-TIF1γ in adult dermatomyositis would refine cancer risk assessment
Anti-transcription intermediary factor 1 γ (TIF1γ) autoantibodies are associated, in adults with dermatomyositis, with an excess risk of cancer. A French study involving clinicians from the Institute of Myology had shown in 2019 that anti-TIF1γ of IgG2 subtype could be a biomarker of this tumor risk. A result confirmed by a retrospective international study conducted … [Read more]
The surgical treatment of myopathic ptosis remains complex
Many neuromuscular diseases are accompanied by ptosis of myopathic origin. The main mechanism is a deficit of the eyelid levator muscle. American ophthalmologists conducted a review of the literature on the surgical treatment of this complication: 27 articles, each with at least four original cases, came to their attention, CPEO (chronic progressive external ophthalmoplegia), oculopharyngeal … [Read more]
Advances in Charcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous diseases, characterised by damage to the peripheral nerves of the upper and lower limbs. This damage mainly causes muscle weakness, hand and foot sensory disorders (and at times, pain) and balance disorders. Most of the time, the condition begins in childhood or young adulthood, … [Read more]
Téléthon 2022 : € 78 051 091. Thank you very much!
The Téléthon 30-hour-long broadcast ended with donations totaling 78 051 091 euros. From Guebwiller to Cassis, Dijon, Lorient and Cap-Ferret, millions of people came together again for the Téléthon, this unique celebration with its thousands of events. A vital support for the families and researchers, “these saving lives maniacs” as Kev Adams called them. But … [Read more]
DMB: cognitive and behavioral disorders better characterized
Two teams evaluated the cognitive and behavioural problems of persons with Becker muscular dystrophy (BMD) in adults and in children aged 5 to 18 years. The first natural history study, published in June 2022, was conducted over four years and involved 28 adults with BMD. The average IQ score was lower than in the general … [Read more]
Neonatal screening for Pompe disease in Italy shows higher than expected incidence
The largest European study of newborn screening for Pompe disease was conducted in north-eastern Italy over a seven-year period and found: an incidence of 1 in 18,795 (i.e. 39 newborns with Pompe disease out of 206,741 tested). As in other countries (Taiwan, Japan, United States, etc.), newborn screening has revealed an increasing incidence of the … [Read more]
DM2: exceptional congenital forms, maternally transmitted, associated with foot deformity
Only three cases of congenital myotonic dystrophy type 2 (DM2) have been reported so far. In all cases, the disease was transmitted from the mother and the children had bilateral club feet or unilateral club feet. A Dutch team reports a case of an 8-year-old girl with DM2 who was born with a valgus flat … [Read more]
Dystrophinopathies: a UK consensus on the cardiological management of boys and women with DMD mutations
In order to reduce regional disparities in cardiological care for boys and female transmitters with dystrophinopathy, a working group (adult and child cardiologists, neuromuscular physicians and nurses, patient representatives), has published recommendations for follow-up and preventive care to be implemented at diagnosis and curative care once heart failure is detected. This consensus applies to children … [Read more]
A new composite score for the evaluation of Kennedy disease
Japanese researchers have developed a new way of assessing Kennedy disease, a form of adult bulbospinal muscular atrophy (SBMA) that is very common in Japan. The assessment included functional scores and quantified measures of muscle strength, in particular, lingual and wrist muscle strength, respiratory function tests and a timed walking test. 97 patients with SBMA … [Read more]
Innovative non-amplification targeted long-read sequencing method enables more accurate characterization of CTG repeats in DM1 patients
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder associated with symptom variability. It is caused by an unstable expansion of CTG repeats that increases over generations and in tissues, up to 4000 CTGs. Clinical variability depends on the number of CTG repeats, CNG interruptions and somatic mosaicism. Until now, the limitations of … [Read more]
