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Events
Release of the 86th newsletter from the Institute – July 2021
On 21/07/2021
Prof. Fabrice Chrétien joined the teams of the Institute of Myology on June 15 as Director of the Center for Neuromuscular Exploration and Assessment which is…
Events
Appointment of Piera Smeriglio at the head of BOND group
On 19/07/2021
Piera Smeriglio will take over the management of the BOND Group – Biotherapies for motor neuron disorders (ALS & SMA) following the upcoming departure of…
Research
The last congress of the FSHD Society took place on June 24 and 25, 2021
On 16/07/2021
Gathered online, facio-scapulo-humeral myopathy (FSH) experts from around the world shared and updated on the latest medical-scientific advances, both in the field of research and…
Events
Success for AcadeMYO, the first virtual edition of the Myology Summer School
On 15/07/2021
AcadeMYO, the first fully virtual release of the institute’s Myology Summer School, took place July 5-9. This 2021 edition was a great success. In fact,…
Events
DMD: start at I-Motion of trials with pamrevlumab in ambulatory and non-ambulatory patients
On 13/07/2021
I-Motion is recruiting patients with Duchenne muscular dystrophy to participate in two pharmacological trials designed to test an antifibrotic monoclonal antibody, pamrevlumab (or FG-3019), developed…
Research
Muscle imaging is useful in the diagnosis and follow-up of most autoimmune myositis
On 13/07/2021
Idiopathic inflammatory myopathies constitute a heterogeneous group of muscular diseases composed, basically, of four major groups: dermatomyositis, overlapping myositis (including anti-synthetase syndrome), inclusion myositis (IBM)…
Research
High phenotypic diversity in patients with CMT linked to a mutation in the MPZ gene?
On 13/07/2021
Hereditary sensory-motor neuropathies type Charcot-Marie-Tooth (or CMT) are clinically and genetically heterogeneous pathologies. Quite common in the general population, they result in a motor deficit…
Research
Clinical and genetic study of 1,000 patients with CIDP reveals 35 cases of misdiagnosed CMT
On 13/07/2021
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) diagnosis is mainly based on the clinical examination and the electromyogram. CIDP is sometimes confused with another demyelinating neuropathy, type…
Research
Hydrophilic statins as toxic to muscle as lipophils
On 12/07/2021
The iatrogenic muscle risk (myalgia, myositis, rhabdomyolysis) associated with statins has been known for a long time. In various clinical trials, 1.5% to 5% of…
Research
Treatment with eteplirsen over a 2-year period shows a beneficial action on walking and breathing in patients with DMD: results of the phase III PROMOVI trial
On 09/07/2021
Eteplirsen (EXONDYS51®) is the first antisense oligonucleotide to be marketed, by Sarepta Therapeutics, in Duchenne muscular dystrophy, targeting the exon 51 skipping of the DMD…
Research
Nusinersen perceptions and expectations in German adults with SMA
On 09/07/2021
SMA is a degenerative disease of the second motor neuron. Four subtypes exist (from I to IV) depending on the onset of the paralysis and…
Research
CADM3: a gene coding a cell adhesion protein involved in a new form of axonal CMT
On 08/07/2021
Hereditary Charcot-Marie-Tooth disease (CMT) type sensorimotor neuropathies are clinically and genetically heterogeneous diseases. They are relatively common in the general population, and result in motor…
Research
Tamoxifen is well tolerated in DMD and has a modest impact on motor function and breathing: results of a phase 1, open-label clinical trial in Israel
On 07/07/2021
Tamoxifen is an anti-oestrogen used to treat certain forms of cancer, such as breast cancer. Its anti-inflammatory and anti-fibrotic properties have led research teams to…
Research
Hydrocephalus and SMA : an american study tends to show nusinersen is not involved
On 07/07/2021
SMA is a degenerative motor neuron disease causing paralysis of varying occurrence and intensity. It is classified into four types, type I, of early onset…
Research
CMT : when the NGS comes to both simplify and complicate things
On 07/07/2021
Charcot-Marie-Tooth (or CMT) type hereditary sensory-motor neuropathies are clinically and genetically heterogeneous pathologies affecting all ages and all sexes. Relatively frequent in the general population,…
Research
Towards a broadening of the phenotype spectrum of the NOTCH2NL gene mutation
On 07/07/2021
Oculopharyngodistal myopathy (OPDM) is a very rare form of myopathy with a late onset, the clinical phenotype of which shares certain traits with oculopharyngeal muscular…
Research
Strengthening exercise can be beneficial for DMD patients in the medium term
On 06/07/2021
Duchenne muscular dystrophy (DMD) is the most common myopathy in children. It results in a progressive muscle deficit predominantly at the root of the limbs…
Research
A study of genotype/phenotype discordance in the SMAs is very informative
On 06/07/2021
SMA is a degenerative disease of the lower motor neurons, responsible for paralysis of varying severity. A distinction is made between four types (I to…
Research
A new form of mixed neuromuscular disease identified using molecular biology
On 05/07/2021
The neuromuscular diseases consist of a group of pathologies that are heterogeneous, both clinically and aetiologically. The element they have in common is involvement of…
Research
Buprenorphine: a therapeutic alternative in paramyotonia congenita?
On 05/07/2021
The paramyotonia congenita belongs to non-dystrophic myotonic syndromes. It is characterized by myotonia which paradoxically worsens during exercise and which can, if necessary, be disabling,…