Myology research highlights
RSS feedRiboflavin transporter deficiency: the importance of treating early, even if it doesn’t solve everything
A retrospective study describes a population of 11 children with riboflavin transporter deficiency (RTD) type 2, all carriers of mutations in the SLC52A2 gene, followed up between 2012 and 2022: the most frequent first symptom was ataxia (n=9), followed by hearing loss (n=4), nystagmus (n=2) and upper limb weakness (n=1); the mean age of onset … [Read more]
Cerebral abnormalities in dysferlinopathies?
Slovakian and Austrian clinicians report the case of a family in which dysferlin deficiency was identified at the same time as structural and functional cerebral anomalies: the non-consanguineous family included four individuals (two sisters and two brothers) with a predominantly distal muscle phenotype (Miyoshi type), two pathological variants of the DYSF gene were identified (c.4076T>C … [Read more]
Thrombotic microangiopathy: a formidable complication of gene therapy
A multidisciplinary group of international experts has examined one of the complications that can arise during systemic gene therapy protocols, particularly in children with spinal muscular atrophy (SMA): thrombotic microangiopathy (TMA) is an immune runaway phenomenon linked to complement activation, with potentially dramatic consequences, Based on published data and their real-life experience with SMA, the … [Read more]
A multi-factorial approach to urinary disorders in DMD
Turkish physiotherapists report on their experience in assessing symptoms, disorders and signs of the lower urinary tract in children with Duchenne muscular dystrophy (DMD): 45 children and adolescents aged 5-18 years with DMD were included in the study, Assessments included a functional score assessing bladder emptying and the risk of urinary incontinence, a Vignos score, … [Read more]
Clinical and biological markers to differentiate between ocular and generalised forms of myasthenia gravis
Danish clinicians reviewed 350 records of patients with ocular or generalised forms of autoimmune myasthenia : clinical, electrophysiological and serological data were compiled and compared, 15.7% of patients had ocular myasthenia, the onset was later than in generalised forms, with lower levels of autoantibodies against the acetylcholine receptor (ARch), diagnostic odyssey was also longer, and … [Read more]
Towards a better assessment of complex cases of titinopathy
The large size of the TTN gene encoding titin and the existence of numerous isoforms make it difficult to interpret genomic variants. An international consortium provides an update on this issue: 12 cases of suspected titinopathy, one of which had already been published, have been the subject of further studies with the aim of determining … [Read more]
Belgian family confirms possible link between HLA-DRB1*11:01 and statin-induced myositis
In Belgium, a father and daughter : developed autoimmune necrotising myopathy with HMGCR autoantibodies a few years apart, following treatment with statins; are both carriers of HLA-DRB1*11:01, a variant already identified as being more frequent in this disease. The case of this Belgian family strengthens the hypothesis of genetic susceptibility to autoimmune myositis. Investigation of … [Read more]
Beware of phytotherapies in dermatomyositis
American clinicians have studied the prevalence and risk-taking among patients suffering from cutaneous autoimmune diseases who use herbal treatments: These included dermatomyositis and systemic lupus erythematosus (SLE), 673 adult patients consulting the University of Pennsylvania between 2007 and 2024 were included in a retrospective study, a third of the patients, particularly younger patients and Hispanics, … [Read more]
Positive feedback on multidisciplinary management of interstitial lung disease in France
Patients with certain inflammatory myopathies are at risk of developing severe interstitial lung disease. French clinicians working in the FAI2R and RespiFil healthcare networks report on their experience after setting up a multidisciplinary unit to help practitioners in the field confronted with this problem: this unit is made up of lung specialists, internists, rheumatologists, radiologists, … [Read more]
Ventilatory weaning and myasthenic crisis: the experience of Raymond Poincaré University Hospital
Clinicians in the western Ile-de-France region have retrospectively analyzed the clinical and paraclinical data of 126 myasthenia gravis patients who presented with a first myasthenic episode during the course of their disease, over the period 2001-2018: 18 of the 126 patients (i.e. 14%) could not be weaned off their ventilator after a first extubation attempt, … [Read more]
