Myotonia congenita is a hereditary muscle disease mainly characterized by muscle
hyperexcitability, which leads to a sustained burst of discharges that correlates with the …

Facioscapulohumeral muscular dystrophy (FSHD) is arguably one of the most challenging
genetic diseases to understand and treat. The disease is caused by epigenetic …

Myotonic Dystrophies (DM, Dystrophia Myotonia) are autosomal dominant inherited
myopathies with a high prevalence across different ethnic regions. Despite some …

Myotonic dystrophy (DM) encompasses a spectrum of neuromuscular diseases
characterized by myotonia, muscle weakness, and wasting. Recent research has led to the …

In the last three decades, the presence of phospholipids in the nucleus has been shown and
thoroughly investigated. A considerable amount of interest has been raised about nuclear …

Background Myotonic dystrophy is a multisystem disorder characterized by widespread
organic involvement including central nervous system symptoms. Although myotonic …

Gastrointestinal and urological symptoms are frequently reported by people with myotonic
dystrophy type 1 (DM1) but have remained understudied. In a cross-sectional study …

Background Cardiac involvement represents a major cause of morbidity and mortality in
patients with myotonic dystrophy type 1 (DM1) and prevention of sudden cardiac death …

Neuromuscular diseases are a heterogeneous group of rare disorders, either hereditary or
acquired, affecting the neuromuscular system. Different diseases affect different parts of the …

Muscular dystrophy (MD) corresponds to a cluster of approximately 30–40 genetically
controlled diseases, which exhibit inheritance patterns that are both dominant and recessive …