Blog Archives
A possible beneficial effect of gentamycin in plectin-related myopathy
Plectin is one of the intermediate filaments essential for maintaining the architecture of the cell. Its deficiency can lead to various cutaneous or neuromuscular pathologies (myofibrillary myopathy, muscular dystrophy, congenital myasthenic syndrome). Spanish researchers report the observation of a 30 year old patient with both epidermolysis bullosa and muscular dystrophy, in whom : on the … [Read more]
Beware of botulinum toxin injections in SMA
Early forms of SMN1-related proximal spinal muscular atrophy are very often accompanied by swallowing disorders and salivary stasis. Canadian clinicians report the case of a 17-month-old child with SMA type I who received several injections into the submaxillary and parotid glands to combat chronic hypersialorrhoea: the child experienced increased hypotonia and regression of modest motor … [Read more]
What is the value of video-oculography in myasthenia gravis?
Video oculography (VOG) is a simple, non-invasive technique of recording eye movements using digital cameras. It could prove useful in the diagnosis of certain forms of myasthenia gravis, as proposed by Turkish clinicians in a study involving 18 myasthenic patients and 50 volunteers: the investigators used an EyeSeeCam device to measure eye saccades in several … [Read more]
A new sequencing technique facilitates the diagnosis of CMT linked to the SORD gene
Australian geneticists and clinicians report on the value of the so-called ‘long-length sequencing’ technique for searching for mutations in the SORD gene. The SORD gene is responsible for one of the most common forms of autosomal recessive axonal Charcot-Marie-Tooth disease (CMT2-AR). This shows that : the reading of longer sequences avoids interpretation errors linked to … [Read more]
FSHD: respiratory impairment is usually stable but should be closely monitored in severe progressive forms
In a cohort of 92 people with FSHD1 (n=88) or FSHD2 (n=4), the number of participants with a restrictive syndrome increased from 41 to 48 over five years. Mean vital capacity (VC) decreased from 79% to 76.7%, with individual variations ranging from a decrease of 33.5% to an increase of 23.6%. The Tiffeneau coefficient increased … [Read more]
Ataluren administered to four women with DMD is well tolerated and stabilises the disease
A retrospective European study analysed data from 4 patients treated with ataluren for a mean of 2.8 years and followed independently for at least 4 years in Italy (2), the UK (1) and Israel (1). In this study: • The four women received treatment at ages 9, 26, 29 and 43 years and for an … [Read more]
M&M’s – Muscle Monday Seminar – 11 April – Charles A. Gersbach (USA)
Genome Editing for Duchenne Muscular Dystrophy Monday April 11th, 2022 – 2pm-3pm Charles A. Gersbach (Departments of Biomedical Engineering & Surgery, Director, Center for Advanced Genomic Technologies, Director, Center for Biomolecular and Tissue Engineering, Duke University, USA) On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr More information on the presentation and the … [Read more]
Encouraging preliminary results from the BBP-418 (ribitol) trial in FKRP-related LGMDR9
Limb-girdle muscular dystrophy R9 (LGMDR9) is caused by a deficiency of FKRP. FKRP allows the addition of ribitol-5-phosphate, a molecule made from ribitol, to the sugar chain already formed by the action of other enzymes. Oral intake of BBP-418 (ribitol) is intended to increase glycosylation of α-dystroglycan by saturating FKRP with substrate. A Phase I … [Read more]
Digenism is not a rare phenomenon in CMT
High-throughput sequencing studies (NGS for Next-Generation-Sequencing) allow to better specify the molecular signature of this neuromuscular disease characterized by an extreme genetic heterogeneity, but also to uncover digenism phenomena as demonstrated by a Chinese study in which : 189 families with a phenotype compatible with Charcot-Marie-Tooth disease (CMT) were explored in NGS, with a prior … [Read more]
The variations of the MFM32 seen by the patient with SMA
An international consortium including clinicians, patient organization representatives and members of the Roche laboratory conducted a study to assess the relevance and significance of the MFM32, a functional score widely used in neuromuscular diseases and SMA in particular: semi-structured interviews were conducted with 40 SMA patients and 217 other patients participated in an online survey … [Read more]
