Myology research highlights
RSS feedOculo-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]
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]
Nusinersen in Neuromuscular Disease Reference Centers
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 and 3 years for three years. The motor functions of these patients, now aged between 3 and 6, improved. Motor development was greater in children with three copies of the … [Read more]
Fatty acid beta-oxidation disorders: a French retrospective study is optimistic despite the lack of treatment
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 diseases showed that : fourteen had carnitine palmitoyl transferase 2 (CPT2) deficiency, nine had multiple acyl-CoA (MAD) deficiency, 13 had long-chain fatty acid dehydrogenase (VLCAD) deficiency, 3 had long-chain 3-hydoxyacyl-CoA … [Read more]
An update of European recommendations on the use of radiological contrast products in myasthenia gravis
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 by their injection. After analysing the sometimes contradictory results of three retrospective studies, the Contrast Products Safety Committee of the European Society of Urogenital Radiology updated its recommendations on the … [Read more]
A review of serious digestive complications in adults with DMD
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 were between 24 and 28 years old, three out of four had never received long-term corticosteroid therapy, all had minor digestive problems such as constipation and/or dysphagia, depending on the … [Read more]
More gastrointestinal and genitourinary disorders than expected in FSHD
The results of a survey on facioscapulohumeral myopathy (FSHD) carried out by the FSHD Society among 701 adult respondents highlighted : difficulties swallowing food at least once a week for 16% of them and the need, for 25%, to adapt the way they eat to get round these problems, constipation, bladder problems, abdominal pain, etc. … [Read more]
Two new cases of congenital myasthenic syndrome linked to the DPAGT1 gene
Limb-girdle congenital myasthenic syndrome (LG-CMS) is a genetically heterogeneous disease characterized by muscle weakness and fatigability. In LG-CMS patients linked to mutations in the DPAGT1 gene, a reduction in the localization of acetylcholine receptors (AChRs) at the neuromuscular junction (NMJ) is observed, due to a glycosylation deficit resulting in a decrease in neuromuscular transmission characterized … [Read more]
