Sleep and Neuromuscular Diseases

Michelle T. Cao, Charles F.P. George, and Christian Guilleminault

Abstract
Neuromuscular disorders consist of central and peripheral neurologic disorders with
impairment of the motor system. The disability of patients with a neuromuscular
disorder worsens during sleep, and the abnormal sleep and secondary impairment of
daytime function further degrade quality of life. Nocturnal sleep disruptions may be
the result of pain and discomfort related to weakness, rigidity, or spasticity that limit
movement and posture. Sleep disruptions may also be related to autonomic
dysfunction (often seen in these patients), poor sphincter control, problems with
clearance of secretions, and abnormal movements and actions during sleep. Most
importantly, sleep-related hypoventilation can occur in all patients, and overlooking
this can lead to death. Daytime evaluation can determine the severity of the disability
but might not identify the presence and severity of an associated sleep related
disorder. Nonspecific symptoms of daytime fatigue and sleepiness indicate poor sleep
in these patients. Polysomnography is the only test that can objectively identify and
evaluate the severity of sleep-related disorders. By recognizing and treating sleep-
related problems, improved survival and better quality of life can be achieved in this
group of patients.

Neuromuscular disorders are diseases caused by impairment of the motor unit

comprising the lower motor neuron, nerve root, peripheral nerve, myoneural junction, and
muscle. Any classification of neuromuscular disease may be somewhat arbitrary, and the
astute clinician must keep in mind that the pathologic process can involve several segments
of the nervous system and muscle. For example, myopathies lead to progressive peripheral
motor and sensory impairment along with autonomic dysfunction. Disorders such as
amyotrophic lateral sclerosis (ALS) or Creutzfeldt-Jacob disease can progress rapidly
toward death, whereas certain chronic polyneuropathies such as Charcot-Marie-Tooth or
autonomic syndromes such as familial dysautonomia can have a slower evolution.

Patients with neuromuscular syndromes are at risk for sleep related problems.
(Video 89-1) Weakness, rigidity, and spasticity limit movements and posture changes
during sleep, leading to discomfort, pain, and disrupted sleep. Difficulty with maintaining
positions of comfort can lead to cramping, abnormal uncontrolled movements, and
weakness, which also contribute to poor sleep. Abnormal sphincter control can induce
urinary and fecal disturbances in the form of nocturia, incomplete emptying or incontinence,
constipation, or painful defecation. The sleep- related changes in respiration put the patient
with a neuromuscular disorder at a specific ventilatory risk by impairing ventilation.
Chronic respiratory muscle failure usually develops slowly over years. It can initially
manifest with disordered breathing during sleep, followed by progression to noctur- nal
hypoventilation then to diurnal hypoventilation, cor pulmonale, and eventual respiratory
failure and end-stage disease. Because of its slow progression, ventilatory failure in some
disorders can go undetected for some time and contribute to increased mortality.
Limited attention is often paid to the impact of sleep- related issues in this
population, particularly because most clinics see a limited number of patients with
neuromuscular disorders. Even in a specialized neuromuscular clinic, less than 2% of
patients are asked about their sleep-related problems or have been given a prior sleep
evaluation.1
Moreover, the common problems (i.e., spasticity, sphincter dysfunction, pain,
abnormal movement, confusional arousal) leading to sleep fragmentation, insomnia,
parasomnias, daytime tiredness, and sleepiness are rarely dealt with by the sleep specialist.
Thus, a multidisciplinary approach to treatment is mandatory in neuromuscular disorders.