Blog Archives
Proper use of paracetamol prescriptions in SMA
Following problems of drug intolerance in patients with SMA who had received paracetamol for pain relief, Danish researchers undertook a pharmacokinetic study: six children and six adults with SMA were included and compared with eleven healthy subjects, all were given paracetamol at the usual recommended doses, repeated serum determinations of several paracetamol metabolites and hepatic … [Read more]
Histopathology of THOC2 splice-site arthrogryposis shows filamentous cytoplasmic inclusions
Following the description in 2021 of a family with X-linked arthrogryposis due to a mutation in the THOC2 gene, a French team reports : another family with the same mutation responsible for arthrogryposis. Muscle biopsy showed a wide variation in the size of muscle fibres, as well as the presence of cytoplasmic bodies in almost … [Read more]
An ultra-early case of mitofusin 2 deficiency
French researchers report the exceptional case of a foetus suffering from a deficiency in mitofusin 2, a mitochondrial protein encoded by the MFN2 gene already implicated in autosomal, dominant or recessive forms of Charcot-Marie-Tooth (CMT) disease: the diagnosis of multiple cerebral malformations was made antenatally after the demonstration of lissencephaly, polymicrogyria and cerebellar atrophy, a … [Read more]
Two new families with a rare form of CMT disease reported in Brazil
Researchers in Sao Paulo, Brazil, report the clinical and paraclinical observations of two families diagnosed with X-linked Charcot-Marie-Tooth (CMT) disease: mutations in the PKD3 gene, including a new one, were identified in these two families, enabling them to be classified as CMTX6, an ultra-rare subtype of CMT in which only a few patients have been … [Read more]
Oculo-pharyngo-distal myopathy: also look for CGG repeats in LOC642361/NUMTM2B-AS1
Oculo-pharyngo-distal myopathy (OPDM) is due to a repeat of CGG triplets in the 5′ untranslated region of one of the LRP12, GIPC1, NOTCH2NLC or RILPL1 genes. Only one Japanese family with MODP due to a CGG repeat in the LOC642361/NUMTM2B-AS1 gene has been described to date. In a new publication, a Chinese team reports : … [Read more]
PTPN11: the missing link between RASopathies and congenital myasthenic syndromes?
RASopathies are pathologies linked to genes in the RAS/MAPK pathway, including the gene encoding the PTPN11 protein (involved in half of Noonan syndromes). An international consortium of researchers has reported the observations of four children: all had mutations in the PTPN11 gene but had previously been investigated for suspected congenital myasthenic syndrome (CMS), the clinical … [Read more]
McArdle’s disease: how to adapt to exercise intolerance
An international online survey gathered the experience of 162 people with McArdle’s disease, with a median age of 52: the median age at diagnosis was 28 and at onset of symptoms 5 years; the median fatigue score reflected moderate to severe fatigue; the median disability acceptance score reflected moderate acceptance; the greatest difficulties experienced were … [Read more]
The Institute of Myology, partner in the European Dreams project – Interview with Stéphane Vassilopoulos
Dreams (Drug REpurposing and Artificial intelligence for Muscular disorderS) is an innovative project funded under a European call for tenders for 5 years, with the aim of developing an innovative methodology combining AI, stem cells and pharmacological screening to identify treatments for 5 muscular disorders. It is coordinated by Dr Xavier Nissan, Director of Research … [Read more]
A focus on complex cases of autosomal dominant titinopathies
An international consortium of researchers coordinated by a team of geneticists from Montpellier and including researchers and clinicians from the Institute is reporting the clinical and biological data of patients diagnosed with primary titinopathy on the basis of more sophisticated investigations (including the RNA-seq technique): 17 patients corresponding to eight families were included in the … [Read more]
Largest cohort of primary carnitine deficiency in the Faroe Islands treated with L-carnitine
A 10-year follow-up of the world’s largest cohort of 139 patients with primary carnitine deficiency, located in the Faroe Islands, where the incidence is particularly high, and treated with L-carnitine supplementation, revealed that : the vast majority of patients are alive and well (others died naturally, unrelated to the disease), a third continue to experience … [Read more]
