Blog Archives
Tongue pressure measurement: a simple tool that can be used on an outpatient basis in NMD with dysphagia
Neuromuscular diseases are very diverse in their presentation and clinical expressions. Swallowing disorders occur in some of them predominantly, for example Duchenne muscular dystrophy (DMD), Steinert’s disease (DM1), amyotrophic lateral sclerosis (ALS), oculopharyngeal muscular dystrophy (OPMD)… These disorders can be the cause of very disabling situations. Dysphagia is classically explorable either by fluoroscopy or through … [Read more]
MFM is establishing itself as a functional scale in NMD, especially in infantile SMA
Tools intended to measure, as objectively as possible, motor strength and/or function in patients with neuromuscular diseases have proliferated in the last few years, especially in the context of innovative therapies appearing on the market. Motor function measure (MFM) is a scale that was developed by a Lyon-based team, and that has gradually established itself … [Read more]
Inclusion myositis is often accompanied by a neuropathy
Sporadic inclusion myositis, an autoimmune disease, is the most common inflammatory myopathy after the age of 50. It results in slowly progressive muscle weakness, proximal (especially quadriceps) and distal (flexors of the fingers in particular). Muscle biopsy shows mixed, inflammatory and degenerative lesions. Publications had already mentioned, on histological and neurophysiological arguments, the possibility of … [Read more]
Pregnancy in a woman with myasthenia gravis, a risky situation
The Healthcare cost and utilization project, nationwide inpatient sample (HCUP-NIS) database includes information on more than 7 million hospital stays in the United States each year. A Canadian team used it to conduct a retrospective cohort study (2005 – 2015) of nearly 10 million deliveries, including 974 women with myasthenia gravis. This disease of the … [Read more]
A gene therapy effective for respiratory function as well in Pompe disease
Pompe disease is linked to mutations in the GAA gene, which encodes an enzyme involved in the degradation of glycogen into glucose. It results in overload myopathy and, very often, restrictive respiratory failure. So far, mouse models developed in the laboratory by inactivating the GAA gene show only a moderate disease phenotype, with relatively spared … [Read more]
DM1: the beneficial effects of cognitive behavioral therapy are observable on MRI
The European OPTIMISTIC trial showed, in 231 patients with Steinert’s disease ( DM1) suffering from severe chronic fatigue, that people who received cognitive behavioral therapy (CBT) for 10 months are more active during the day (DM1-Activ-c scale, activity monitor, 6-minute walk test, etc.) with better social participation and a reduced level of fatigue and drowsiness. … [Read more]
A new study confirms high incidence of retinal damage in FSH
Facio-scapulo-humeral myopathy (FSH) is a genetic disorder that affects about 3,000 persons in France, it is one of the most common muscular dystrophies in adults. There are two types (FSHD1 in 95% of cases, and FSHD2) genetically distinct but both due to the aberrant expression of the DUX4 gene, toxic to skeletal muscle. Selective muscle … [Read more]
Ataluren found to be globally effective in DMD, especially in patients with good initial walking ability, according to three meta-analyzes
Duchenne muscular dystrophy (DMD) results in progressive muscle deficit with loss of walking around the age of 10-12 years. Ataluren (Translarna®) has a marketing authorization in DMD since July 2014 in Europe; yet, no randomized, controlled, double-blind clinical trial has met its primary endpoint. An international team has conducted meta-analyzes to better determine the efficacy … [Read more]
Transient immunosuppression improves outcome of enzyme replacement therapy in childhood forms of Pompe disease
Pompe disease is a lysosomal disease caused by the absence of an enzyme involved in the degradation of glycogen. Inherited in an autosomal recessive mode, it results in overload myopathy and almost constantly restrictive respiratory failure. Two forms are distinguished: the infant form (IOPD for Infant Onset Pump Disease) and a later onset form (LOPD … [Read more]
Supervillin deficiency: a new form of myofibrillar myopathy
Myofibrillar myopathies constitute a small, fairly heterogeneous group of neuromuscular pathologies characterized, at the histopathological level, by the accumulation of protein products causing a disorganization of the internal architecture of the muscle fiber. Their clinical manifestations are varied, most often with damage to the distal muscles and potentially fatal cardiac abnormalities. In an article published … [Read more]
