Spinal Muscular Atrophy

Spinal muscular atrophies (SMA) are a group of heritable neurodegenerative disorders that vary greatly in terms of severity and prognosis. The SMAs are characterized by progressive neuromuscular weakness, spinal deformity, frequent, severe respiratory infections and, ultimately, death following respiratory failure. Intellectual and personality development, as well as sensory function, are not affected. Several distinct types of SMA are classified by degree of neuromuscular impairment and age at diagnosis. The condition occurs in approximately one newborn in 6,000. Although SMA is incurable, it is increasingly treatable. With aggressive disease management including effective airway clearance therapy (ACT and assisted ventilation), longer term survival is increasing steadily.

Children with SMA have an increased risk of recurrent pneumonia from impaired airway clearance. Cough and pulmonary defenses diminish progressively as thoracic skeletal deformity worsens and respiratory and swallowing muscles weaken. Increased risk for aspiration and reduced ability to clear airway secretions ensues, leading to increasing frequent and severe respiratory infections and pneumonias.

Many physicians prescribe high frequency chest compression (HFCC) airway clearance therapy (ACT) for SMA patients who cannot mobilize airway secretions without therapeutic intervention. Methods requiring active participation are generally unsuitable. In patients with ineffective cough, additional techniques or devices to clear secretions from central airways are also required.

To view all clinical HFCC studies…
See also…

    Articles

  • Braverman J, Nozzarella M. High-frequency chest compression: Advanced therapy for obstructive lung disease. Respir Therp 2007; 2 (2): 48-51. [Link]
  • Toder DS. Respiratory problems in the adolescent with developmental delay. Adolescent Medicine: State of the Art Reviews. 2000; 11 (3): 617-631. [PubMed]

Links