Myology research highlights
RSS feedWhat 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]
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]
