Muscular dystrophies are primary diseases of muscle due to mutations in more than 40
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and
where the primary area of pathology is in the peripheral nervous system. These conditions …

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with
histological features suggesting a dystrophic process. The congenital muscular dystrophies …

Background Respiratory muscle weakness is an important feature of spinal muscular
atrophy (SMA). Progressive lung function decline is the most important cause of mortality …

Respiratory muscles are classically involved in neuromuscular disorders, leading to a
restrictive respiratory pattern. The diaphragm is the main respiratory muscle involved during …

Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous
conditions; some fatal in the first few years of life and with central nervous system …

Background The number of children receiving domiciliary ventilatory support has grown over
the last few decades driven largely by the introduction and widening applications of non …

PURPOSE OF REVIEW Congenital muscular dystrophies and congenital myopathies are a
heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic …

Prevalence studies have shown heterogeneous use of home mechanical ventilation in
different conditions, with a marked increase in uptake especially in users of noninvasive …

Use of long-term non-invasive ventilation is increasing exponentially worldwide in children
of all ages. The treatment entails delivery of ventilatory assistance through a non-invasive …