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2414 news items
Research
Despite neonatal screening, neurodevelopmental disorders are reported in some SMA patients
On 05/02/2024
The experts in charge of setting up newborn screening for spinal muscular atrophy (SMA) in Germany have warned of a number of cases of developmental…
Research
Quantitative muscle imaging could be useful in assessing the impact of nusinersen in SMA
On 02/02/2024
Dutch researchers have tested magnetic resonance imaging (MRI) of muscles as a possible tool for measuring the effectiveness of treatment of SMA with nusinersen (Spinraza)…
Research
The clinical spectrum of MELAS and associated diseases
On 02/02/2024
The Mayo Clinic team reviewed the records of 81 patients with characteristic clinical MELAS or with a positive genetic test for MELAS but without all…
Research
Proper use of paracetamol prescriptions in SMA
On 01/02/2024
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…
Research
Histopathology of THOC2 splice-site arthrogryposis shows filamentous cytoplasmic inclusions
On 01/02/2024
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…
Research
An ultra-early case of mitofusin 2 deficiency
On 31/01/2024
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…
Research
Two new families with a rare form of CMT disease reported in Brazil
On 31/01/2024
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,…
Research
McArdle’s disease: how to adapt to exercise intolerance
On 30/01/2024
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…
Research
Oculo-pharyngo-distal myopathy: also look for CGG repeats in LOC642361/NUMTM2B-AS1
On 30/01/2024
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…
Research
PTPN11: the missing link between RASopathies and congenital myasthenic syndromes?
On 30/01/2024
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…
Research
The Institute of Myology, partner in the European Dreams project – Interview with Stéphane Vassilopoulos
On 29/01/2024
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…
Research
A focus on complex cases of autosomal dominant titinopathies
On 29/01/2024
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…
Research
Largest cohort of primary carnitine deficiency in the Faroe Islands treated with L-carnitine
On 29/01/2024
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…
Research
Nusinersen in Neuromuscular Disease Reference Centers
On 29/01/2024
Clinicians from the French network of neuromuscular disease specialists followed a cohort of 37 children treated with nusinersen (Spinraza) between the ages of 2 months…
Research
Fatty acid beta-oxidation disorders: a French retrospective study is optimistic despite the lack of treatment
On 26/01/2024
Analysis of retrospective data from 44 adults with fatty acid beta-oxidation deficiency followed up in six French centres of reference for rare neuromuscular or metabolic…
Research
RhoA is a key regulator of myoblast fusion
On 25/01/2024
Satellite cells (SCs) are adult muscle stem cells that are recruited when muscle homeostasis is disturbed. The RhoA GTPase is an important signalling enzyme involved…
Research
An update of European recommendations on the use of radiological contrast products in myasthenia gravis
On 25/01/2024
Myasthenia gravis is included in the “precautions for use” of iodinated contrast products because of a possible worsening of the symptoms of the disease caused…
Research
CMT 4J: heterogeneous clinical pictures where electrophysiology is not always sufficient for diagnosis
On 24/01/2024
Mutations in the FIG4 gene are responsible not only for Charcot-Marie-Tooth (CMT) 4J disease, but also for amyotrophic lateral sclerosis and Parkinson disease. In this…
Research
A review of serious digestive complications in adults with DMD
On 24/01/2024
Based on four emblematic individual cases of young adults with Duchenne muscular dystrophy (DMD), a British team studied and reviewed life-threatening digestive complications: DMD patients…
Research
More gastrointestinal and genitourinary disorders than expected in FSHD
On 24/01/2024
The results of a survey on facioscapulohumeral myopathy (FSHD) carried out by the FSHD Society among 701 adult respondents highlighted : difficulties swallowing food at…