Publisher Summary Myogenic development and differentiation is regulated by a number of
developmental genes. Abnormal suprasegmental input from the brain and spinal cord can …

This overview will discuss the group of genetically based neuromuscular disorders, the
initial diagnostic workup, and management. This is a genotypically and phenotypically …

Advances in electrophysiology, molecular biology, and genetics have expanded the
understanding of the clinical presentations of neuromuscular diseases. The adult …

The congenital muscular dystrophies are a group of genetic myopathies characterized by
hypotonia, weakness, or arthrogryposis at birth. Classification is inadequate and based …

The diagnostic and referral workflow for children with neuromuscular disorders is evolving,
particularly as newborn screening programs are expanding in tandem with novel therapeutic …

The congenital myopathies are a heterogeneous group of neuromuscular disorders defined
by distinctive histochemical or ultrastructural changes in muscle. Most of these disorders …

The term “neuromuscular disorders” covers a large variety of diseases with the common
feature of predominant affection of the neuromuscular unit including motor neuron …

The muscular dystrophies have been traditionally classified based mainly on clinical
manifestation and mode of inheritance. Owing to the discoveries of causative genes, new …

Paediatric motor neuron diseases encompass a group of neurodegenerative diseases
characterised by the onset of muscle weakness and atrophy before the age of 18 years …

Clinical manifestations of malformations of cortical development (MCD) are variable and can
range from mild to severe intellectual disability, cerebral palsy and drug-resistant epilepsy …