Neuromuscular diseases are the group of conditions that affect the strength and ability of

muscles to function. In addition to the lungs, which provide an interface between inhaled air and
circulating blood, the respiratory system includes the thoracic cage, which forms the structure of
the ventilatory pump, and the muscles of respiration, whose action on the thoracic cage produces
movement of air into and out of the lungs. Diseases that affect the brain, nerves, muscles, or
thoracic cage can lead to respiratory failure or hypoxemia even if the lungs are normal.

The components of the neuromuscular system that affectrespiration include the brain
(especial lly respiratory centers in the brainstem), the nerves (the phrenic nerve supplying the
diaphragm, the intercostal nerves supplying many of the other respiratory muscles, and the
bulbar muscles coordinating the throat), the neuromuscular junction, and the muscles of
inspiration, expiration, and upper airway control. Respiratory muscle weakness or ventilatory
failure is often the most important clinical dysfunction for many patients with neuromuscular
diseases. Other effects of neuromuscular disease on the respiratory system include
hyperventilation or hypoventilation, sleep apnea, aspiration, atelectasis, pulmonary hypertension,
and cor pulmonale. Signs and symptoms that may indicate weakness of the respiratory muscles
include exertional dyspnea, orthopnea, decreased volume of voice, weak or ineffective cough,
accessory muscle use, and paradoxical breathing pattern (abdominal paradox). Pulmonary
function abnormalities in patients with inspiratory muscle weakness typically include decreases
in PImax, TLC, VC, and FEV1. Residual volume can be increased. There often is an abnormally
large decrease in FVC and FEV1 (30% to 50%) when patients repeat testing in the supine
position, compared to the seated position. Diffusing capacity corrected for alveolar volume
typically is normal. Common neuromuscular disorders that cause respiratory compromise
include ALS, myotonic dystrophy, spinal cord injury, GBS, Duchenne muscular dystrophy, and
MG. Cervical spine injury above the C3 level results in complete paralysis of the respiratory
muscles and necessitate emergency mechanical ventilation. Cervical spine injury below C5 leads
to weakness of the expiratory muscles with decreased ability to cough and clear secretions.
Unilateral diaphragmatic paralysis resulting from phrenic nerve damage usually is asymptomatic
and is associated with minor reductions in respiratory function in an otherwise healthy patient.
Scoliosis is abnormal lateral curvature of the spine. Respiratory insufficiency can occur if the
curve is severe. Flail chest typically results from trauma to the chest. Multiple fractures of
adjacent ribs produce a free-floating segment of the thoracic cage, which displays paradoxical
excursion during the respiratory cycle. Flail chest often is associated with serious damage to the
lungs, heart, or great vessels. Respiratory insufficiency in patients with flail chest can occur
through numerous mechanisms.