Blog Archives

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]

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]

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]

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]

Chinese researchers have identified a new gene responsible for an ultra-rare form of oculo-pharyngo-distal myopathy. It joins three other genes, LRP12, GIPC1 and NOTCH2NLC, which have in common that they are linked to the same pathological nucleotide expansion of the CGG type. The RILPL1 gene: was identified through the study, by sequencing of long fragments, … [Read more]

• The retrospective study involves 72 participants (34 men and 38 women) with LGMD R1 (calpainopathy). • Patients have the following characteristics: the disease manifests between one and 35 years, on average around 13 years, nearly 40% of the participants had manifestations before the age of 12, 49% between the ages of 12 and 20, … [Read more]

In two decades, the Center for Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD or FSH) in China (Fujian Neuromedical Centre) has collected and followed data from 997 patients with this myopathy and from 620 families. Their analysis shows that: on average, the number of D4Z4 repeat units is 5 (1 to 9 depending on the … [Read more]

The team from the London Neuromuscular Center studied the evolution of oral food intake capacities measured by the Pediatric Functional Oral Intake Scale (p-FOIS), in 24 children with spinal muscular atrophy linked to SMN1 ( SMA) type 1, on nusinersen for 2 years, from a median age of 11 months (1 month to 7.5 years). … [Read more]