Myology research highlights
RSS feedA new form of muscular dystrophy identified using high throughput sequencing
There are still many cases of orphan hereditary neuromuscular diseases. This results in diagnostic error that is often harmful to the care of the patient himself/herself, but also to the family (genetic consultation). In this context, the development of high throughput sequencing or next-generation sequencing (NGS) techniques represents a major contribution. An article published in … [Read more]
A minimum of two and a half hours of exercise per week would be beneficial in Myasthenia gravis
Myasthenia gravis is a neuromuscular disease linked to the deleterious effects of autoantibodies directed against elements of the neuromuscular junction, mainly the acetylcholine receptor located in the postsynaptic region. This common disease results in typically fluctuating paralysis initially predominant in the eye muscles with possible generalization to other muscle groups, as well as greater fatigue. … [Read more]
Significant association between nutritional status and respiratory status
A close relationship between nutritional status and respiratory muscle function has been demonstrated by clinicians at Raymond Poincaré Hospital (Garches) in 117 adults with Duchenne muscular dystrophy. Aged 18 to 39 years old, they all were on mechanical ventilation at home, in a wheelchair, and were not taking corticosteroids. To get to this conclusion, the … [Read more]
A case of autoimmune necrotizing myopathy possibly linked to Covid-19
Autoimmune necrotizing inflammatory myopathy has a special place among autoimmune muscle diseases. Recently described, this entity is diagnosed on muscle biopsy with aspects more necrosis than inflammation, a muscle deficit of varying importance, an increase of CPK level and autoantibodies directed against the HMGCR and / or SRP. Taking statins is one of the triggers … [Read more]
SMA: A very useful compilation of medico-economic studies
SMA has recently experienced a spectacular acceleration at the therapeutic level. Genetically determined, this neuromuscular disease causes paralysis related to the degeneration of peripheral motor neurons and, for some affected children, earlybouleverser death. The arrival on the market of three drugs, Spinraza®, Zolgensma®, and Evrysdi® disrupts the natural history of the disease and raises many … [Read more]
Completely and spontaneously reversible mitochondrial myopathy: an extremely rare case
The literature has already reported a form of mitochondrial myopathy in the newborn, which has the particularity of being self-limiting. This improvement is related to the transient nature of the respiratory chain deficit observed in these young children. This entity is listed as such with the acronym RIRCD for Reversible Infantile Respiratory Chain Deficiency), however, … [Read more]
The attitudes and expectations of patients with SMA are changing with regard to innovative therapies
SMA is currently experiencing a therapeutic revolution, with more and more new molecules on the market or about to be approved. This crippling neuromuscular disease affects several thousand patients in Europe. Many of them are active in European patient associations, most of which are affiliated with SMA-Europe. This associative alliance reports, in an article published … [Read more]
A retrospective study from Nantes University Hospital characterizes severe cardiac involvement in women transmitting DMD
A team from Nantes University Hospital is launching a retrospective study, led by Prof. Sandra Mercier, geneticist, to describe the forms of severe heart failure in women with dystrophinopathy. Less than 10% of these women suffer from more or less severe heart disease. The study will allow a more detailed description of the cardiac involvement, … [Read more]
A single injection of a promising double gene therapy in a OPMD mouse model
Oculopharyngeal muscular dystrophy (or OPMD) is a relatively rare type of muscular dystrophy that tends to affect and older population. This condition is transmitted in an autosomal dominant manner, and results in the gradual development, from 50 years of age, of the bilateral drooping of the eyelids and difficulty swallowing, and also the appearance of … [Read more]
A good record for the longest follow-up to date of Zolgensma in SMA
After obtaining positive results on the motor development of 15 infants with type I SMA, aged less than 6 months and symptomatic during the first gene therapy trial lasting two years (START study), Zolgensma (onasemnogene abeparvovec) will be evaluated over the next 15 years (START long-term follow-up study). The results published after five years of … [Read more]
