Screening

Patients with neuromuscular disease commonly develop sleep-disordered breathing, including alveolar hypoventilation, prior to the development of daytime hypercapnia, and sleep-disordered breathing is associated with disease progression.[42] Therefore, it is suggested that these patients be screened for the presence of sleep-disordered breathing at 6-month intervals to identify those who may benefit from therapeutic intervention.[44][45]​​

When assessing people with suspected obstructive sleep apnoea (OSA), commonly used screening questionnaires include the STOP-BANG (snoring, tiredness, observed apnoea, blood pressure, body mass index, age, neck circumference, and sex) and the STOP (snoring, sleepiness, and other features associated with increased OSA risk such as obesity, increased neck girth, and hypertension). The Epworth Sleepiness Scale is a self-administered questionnaire in the preliminary assessment of sleepiness. Epworth Sleepiness Scale Opens in new window The higher the score, higher is the sleep propensity in daily life.[46][47]

Testing includes pulmonary function tests, measurement of respiratory muscle strength, and assessment of central respiratory drive, which have been shown to predict the presence of sleep-disordered breathing in patients with primary myopathies.[16][45][48]​​​​ Additional screening can include measurements of serum bicarbonate, haematocrit, and arterial blood gas. Polysomnograms are recommended to be done early in patients with myopathies and other restrictive disorders such as amyotrophic lateral sclerosis, due to the impact of therapy on quality of life and overall survival, which will be seen even before the development of daytime hypercapnia.[36][44][49][50]

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