Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy

Respiratory muscle fibres: specialisation and plasticity

“…For unknown reasons the muscle groups which mark the onset of the disease vary among the muscular dystrophies but are mostly represented by limb muscles. Respiratory insufficiency occurs late in patients with Duchenne, Becker and limb girdle dystrophies, being one of the most common causes of death, 110 and is very infrequent in patients with facio-scapulo-humeral muscular dystrophy. 111 Congenital myopathies such as Ulrich's congenital myopathy 112 which is characterised by early severe respiratory impairment is an exception.…”

Nocturnal hypoventilation: predictors and outcomes in childhood progressive neuromuscular disease

“…NH, however, may be difficult to diagnose in a clinic setting as symptoms are insidious 2 3. Daytime clinical assessments and pulmonary function tests (PFTs) fail to reliably identify patients with NH 4 5. Overnight polysomnography remains the gold standard for documenting sleep-related hypoventilation,1 6 but has limited availability.…”

“…Small uncontrolled studies of NPPV in children with chronic respiratory failure have demonstrated survival4 7–10 and quality of life benefits 5 7 11–13. Blood gas values also improve when NPPV is used to treat NH,14 although its effect on preservation of pulmonary function is unknown.…”

Anisomycin Activates Utrophin Upregulation Through a p38 Signaling Pathway

“…Respiratory failure is typically the cause of mortality in patients with DMD, due to degeneration of, among other muscles, the diaphragm 9. Therefore, the restoration or preservation of diaphragmatic function is an important aspect of any effective DMD therapy.…”