Blog Archives
Two unusual phenotypes reported in inclusion body myositis
Inclusion body myositis (IBM) is an autoimmune myopathy characterised mainly by damage to the flexor digitorum and quadriceps muscles occurring after the age of fifty. English clinicians point out the existence of two unusual clinical phenotypes. In the first, the onset was surprisingly early, around the age of 30 (in one man and one woman) … [Read more]
Phase 2 trial concludes in favour of subcutaneous administration of immunoglobulins in myasthenia gravis
The background treatment of myasthenia gravis (MG) requires, in some cases, the administration of polyvalent immunoglobulins. US clinicians report the results of a multicentre phase 2 trial comparing the efficacy and safety of subcutaneous versus conventional intravenous immunoglobulin: 23 patients with myasthenia with autoantibodies to the acetylcholine receptor participated in the study, the trial was … [Read more]
Anti-CD19 CAR-T cells effective in refractory anti-Jo1 antisynthetase syndrome
A German team reports the successful treatment of a patient with refractory anti-Jo1-associated antisynthetase syndrome with CAR-T cells. After an initial transient worsening (myalgia, CPK 13,600 U/L, fever for 3 days), the 41-year-old man’s condition quickly improved. Three months after the injection of CAR-T cells: lesions had disappeared on thigh muscle MRI; Oxygen weaning was … [Read more]
Genetic analysis strategy in hereditary neuropathies
French clinicians, aiming to guide the genetic diagnosis of patients with hereditary peripheral neuropathy, have outlined in a review the clinical and neurophysiological aspects as well as the potential treatments of these diseases. Indeed, hereditary neuropathies are a heterogeneous group of disorders affecting the motor, sensory and/or autonomic nerves, the diagnosis of which can be … [Read more]
Publication of results from the IONIS-DMPKRx trial in DM1
IONIS-DMPKRx, also known as baliforsen is an antisense oligonucleotide developed by IONIS Pharmaceuticals in DM1. It was tested in a Phase I/II clinical trial in 48 patients between 2014 and 2016. The results were published in the Lancet Neurology journal in March 2023, confirming the initial results announced by press release in 2017: The product … [Read more]
Low-carbohydrate ketogenic diet and McArdle’s disease: results of an international survey
An international survey of 183 people with McArdle’s disease in 18 countries, including France, was conducted to gather their experiences with the low-carbohydrate, high-fat ketogenic diet. The results show that: one third of the participants have tried this diet, among them, nearly 90% reported positive effects on McArdle’s disease symptoms (exercise intolerance, muscle pain and … [Read more]
Differentiated complement activation profiles in myasthenia gravis
German and English researchers studied the profile of complement activation in patients with myasthenia gravis, both seropositive and seronegative, and with and without standard immunosuppressive therapy. In the cohort of acetylcholine receptor-positive patients (AChR-Ab+), complement activation was confirmed in contrast to the other cohorts studied (MuSK+ patients, HIV-negative patients, control subjects) Some of this activation … [Read more]
A plea for less invasive muscle biopsy techniques
Australian researchers reviewed the medical literature on the practice of muscle biopsy. In particular, their interest and performance at the diagnostic level were studied, as well as the rate of complications inherent to this invasive procedure. 66 published studies were included in the review. 60% of the studies reported general anesthesia prior to open muscle … [Read more]
ERN EURO-NMD webinar, 4th May – Dr Ulrike Schara-Schmidt (Germany)
Floppy child 4th May 2023 at 16:00 Paris Time Dr Ulrike Schara-Schmidt (University Clinics Essen, Essen, Germany) Registration: https://zoom.us/webinar/register/WN_pY17Imm6S8-dAcL9JSXwQQ Organised by EURO-NMD in collaboration with ERN-RND.
Long-term maintenance of normalized cardiac function on ERT in infantile Pompe disease
Analysis of echocardiograms of 27 patients with infantile Pompe disease on enzyme replacement therapy (ERT) obtained during a median follow-up of 9.9 years (maximum 22 years) shows: a normalization of the left ventricular mass index after 1 year of ERT; the mean shortening fraction was within normal limits before ERT and remained so until 22 … [Read more]
