Myology research highlights

Limb Girdle Muscular Dystrophies (LGMD) and myasthenic syndromes form basically two distinct groups of neuromuscular pathologies. The first result in a more or less progressive deficit of the pelvic and shoulder girdles while the second cause ocular and bulbar symptomatology, with or without fluctuating character. In recent years, numerous observations of abnormalities in postsynaptic transmission … [Read more]

Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder in children. There are 3 types (from I to III) depending on the age of onset of symptoms and the maximum functional abilities reached. Recently, innovative curative therapies have emerged, whether it is nusinersen (Spinraza®), onasemnogene abeparvovec-xioi (Zolgensma®) or risdiplam™… As numerous studies have shown, … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disorder in boys. It causes progressive motor deficit predominant in the root muscles and then spreads to the respiratory muscles and the heart, all together leading to premature death. With the improvement and standardization of medical and surgical management of this pathology an increased longevity and … [Read more]

Myotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults. Normal pressure hydrocephalus (NPH) is characterized by the triad of gait disturbance, cognitive impairment and urinary incontinence. The association between DM1 and NPH is extremely rare. The authors report a Chinese female patient with DM1 in … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disorder in boys. It is linked to the genetically determined absence of the dystrophin, a major muscle fiber protein. DMD causes progressive motor deficit predominant in the root muscles and then spreads to the respiratory muscles and the heart, all together leading to premature death. With … [Read more]

Infant spinal muscular atrophy (SMA) is the second most common neuromuscular disorder in children. There are 3 types (from I to III) depending on the age of onset of symptoms and the maximum functional abilities reached. In type I, paralysis begins before the age of six months and most children die before the age of … [Read more]

The objective of this study was to describe the characteristics of patients with very-late-onset myasthenia gravis (MG). This observational cross-sectional multicenter study was based on information in the neurologist-driven Spanish Registry of Neuromuscular Diseases (NMD-ES). All patients were >18 years of age at onset of MG and onset occurred between 2000 and 2016 in all … [Read more]

Fingerprint bodies are observed in a variety of clinical situations with no definite genetic cause identified so far.  The French clinicians report for the first time the association of fingerprint bodies with rods in a patient who developed a slowly progressive myopathy affecting the face and limb extremities. Ultrastructural examination first disclosed fingerprint bodies and … [Read more]

Charcot-Marie-Tooth disease (CMT) is one of the most common hereditary neuropathies. It causes a sensory-motor deficit of variable gravity, generally evolving very slowly over time. Very heterogeneous from a clinical and electrophysiological point of view, but also genetic (nearly 90 CMT genes, all forms combined, have been identified so far), CMT causes distal motor deficit … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disorder in boys. It is linked to the genetically determined absence of the dystrophin, a major muscle fiber protein. DMD causes progressive motor deficit predominant in the root muscles and then spreads to the respiratory muscles and the heart, all together leading to premature death. With … [Read more]