Blog Archives
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]
Home spirometry monitoring doubly useful in DMD
Polish specialists report the results of an experimental study involving home measurement of spirometric parameters. The medical team collected these data over a period of three months using an electronic spirometer linked by telematics to a central platform : 21 patients with Duchenne muscular dystrophy (DMD) aged 2 to 22 years, half of them in … [Read more]
No benefit to treat dermatomyositis or polymyositis specifically with branched chain amino acids
Amino acids (leucine/valine/isoleucine), codenamed TK-98, could be an adjuvant to conventional corticosteroid treatment of myositis and combat the muscle atrophy associated with it. Japanese researchers tested their efficacy in a randomized placebo-controlled trial conducted over three months and followed by an open-label phase 47 patients with polymyositis or dermatomyositis participated, a modest gain was observed … [Read more]
MuSK-related myasthenia prone to myotonic phenomena?
Myasthenia gravis with positive autoantibodies against the protein MuSK, a muscle-specific tyrosine kinase, is distinct from other forms of myasthenia gravis by the frequency of bulbar involvement. Electrophysiologically detectable myotonia could be a manifestation of this, as reported in two original observations: the first one concerns a 53-year-old patient with classic myasthenic symptoms and signs … [Read more]
Growing number of gene therapy approaches in CMT
According to 4 recent publications, gene therapy approaches in the demyelinating (CMT 4J) or intermediate (CMT X1) or axonal (CMT 2D) forms of Charcot-Marie-Tooth disease (CMT) help to target the Schwann cells, supplying them with gene therapy, and thus reducing peripheral nervous system involvement. American researchers have built a gene therapy product incorporating the FIG4 … [Read more]
