The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and defined by distinctive histochemical or ultrastructural changes on muscle biopsy. The muscular dystrop...

This article shortly examines the biography, scientific activity and scientific work on neuromuscular diseases of the famous Russian neurologist Vladimir Roth who was the founder of neuromuscular disorders study in Russia. In 1876 he was the first in Russia who performed an autopsy and a detailed histological study of a case of progressive muscular atrophy, in which he did not find changes in t...

Mutations in plectin, a widely expressed giant cytolinker protein can lead to different diseases mostly with signs of muscular dystrophy (MD) and skin blistering. The only report of plectin-related disease without skin involvement is limb-girdle muscular dystrophy type 2Q (LGMD2Q) phenotype, showing early-onset limb-girdle muscular dystrophy symptoms with progressive manner and no cranial muscl...

Antisense-mediated splicing modulation is a tool that can be exploited in several ways to provide a potential therapy for rare genetic diseases. This approach is currently being tested in clinical trials for Duchenne muscular dystrophy and spinal muscular atrophy. The present review outlines the versatility of the approach to correct cryptic splicing, modulate alternative splicing, restore the ...

Genetic editing technologies have emerged as a potential therapeutic tool in various biomedical fields owing to their applications against cancer, neurological diseases, diabetes, autoimmune disorder, muscular dystrophy, bacterial infections (AMR), and cardiovascular diseases. CRISPR is one such valuable genetic with extensive appliances but major challenge terms of delivery. Herein, we strived...

The muscular dystrophies comprise a heterogeneous group of genetic disorders that produce progressive skeletal muscle weakness and wasting. There has been rapid growth and change in our understanding of these disorders in recent years, and advances in basic science are being translated into increasing numbers of clinical trials. This review will discuss therapeutic developments in 3 of the most...

Duchenne muscular dystrophy (DMD), the most common form of muscular dystrophy, is characterized by muscular wasting caused by dystrophin deficiency that ultimately ends in force reduction and premature death. In addition to primary genetic defect, several mechanisms contribute to DMD pathogenesis. Recently, antioxidant supplementation was shown to be effective in the treatment of multiple disea...

Muscular dystrophy is one of the rare diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. There are many different types of muscular dystrophy based on the age of onset, severity and pattern of inheritance, of which duchenne and becker muscular dystrophies being more prevalent. The absence or abnormality of dystrophin, a protein which fo...

UNLABELLED Neuromuscular diseases represent an important group in pediatric pathology. Immunohistochemistry together with clinical examination and morphologic exam are very important in the diagnosis of neuromuscular disorders. PATIENTS AND METHODS One hundred children diagnosed with neuromuscular disorders were included in a prospective-retrospective study in 25 years. RESULTS There were 5...

neurodegenerative disorders such as huntingtons disease, alzheimers disease, parkinsons disease, amyotrophic lateral sclerosis, spinal muscular atrophy, friedreichs ataxia, and others are multi-factorial illnesses in which many pathways (still poorly understood) act serially and in parallel to give a determined pathologic phenotype. thus, presently there are no effective cures for these disease...