Sleep, 1:19-31,1978
© Raven Press, New York
Respiratory and Hemodynamic Study During Wakefulness and Sleep in Myotonic Dystrophy *Christian Guilleminault, t Joseph Cummiskey, Horge Motta, and tPatricia Lynne-Davies *Sleep Disorders Clinic, tDivision of Respiratory Medicine, and tDivision of Cardiology, Stanford University School of Medicine, Stanford, California
INTRODUCTION Daytime hypersomnolence is frequently reported by patients with myotonic dystrophy (Coccagna et aI., 1975; Goldenberg et aI., 1977), Kilburn et a1. (1959) suggested that alveolar hypoventilation secondary to respiratory muscle weakness, a commOn finding in these patients, might explain the hypersomnolence. Coccagna et a1. (1975) and Goldenberg et a1. (1977) suggested the involvement of a central neurogenic abnormality in the appearance of this symptom. Rapid eye movement (REM) sleep periods at onset of sleep, seen in narcoleptics, also occur in these patients, suggesting a common abnormality. A further possibility is that a central neurogenic dysfunction resulting in hypo ventilation and sleep-wake cycle disruption may be responsible for the symptomatology. Accordingly, respiratory and hemodynamic studies during sleep and wakefulness were appraised in six patients with grade I (disease mild) (Gillam et aI., 1964) myotonic dystrophy, whose excessive daytime somnolence previously had been extensively documented by several 36 hr polygraphic recordings (Guilleminault et aI., 1978a). METHODS
Patients The patients were six young adult men with a mean age of25.5 years (range, 171 to 34) who gave informed consent to participate in the study. Their mean weight was 613 kg (range, 50.2 to 68.2) and mean height was 173 cm (range, 168 to 188) (see Table 1). They had been followed at Stanford University Medical Centerfor a mean of 3.6 years (range, 1 to 5). All patients presented with grade I myotonic Address infOTmation and reprint requests to Dr. Guilleminault, Sleep Disorders Clinic, Stanford University School of Medicine, Stanfon;l, California 94305. Key words: Myotonic dystrophy-Sleep apnea-Hemodynamic monitoring-Arrhythmia during sleep. I Informed consent given by patient and parents.
19
20
C. GUILLEMINAULT ET AL.
3min.
FLUSH
FIG. 1. Continuous arterial P0 2 monitoring during NREM sleep in patient A. This patient had repetitive apneic episodes with continuous oscillation of oxygen levels. Arterial P0 2 varied between 60 and 70 mm Hg during air exchange and dropped to 40 to 50 mm Hg during each apneic event. The distance from trough to trough is indicative of the duration of each abnormal respiratory cycle.
dystrophy syndrome and had noted symptoms for a mean of 12 years (range, 6 to 18). They were all socially active and employed or in school. Muscular involvement was considered mild to moderate. Patient D had a typical mechanical and electric myotonic reaction but no decrease in muscle strength. Patients Band E had the most important muscle deficit, essentially facio-scapulo-humeral in location. Their diagnoses were based on clinical symptoms; in addition, electromyography and limb muscle biopsies had been performed prior to their acceptance into the study. Chest X-ray film, 12-lead electrocardiogram (ECG), and routine laboratory studies including endocrinologic investigations and ophthalmologic evaluations were done before the study. All patients reported daytime sleepiness; only one (patient F) had had a sleep onset REM period (Coccagna et aI., 1975; Goldenberg et aI., 1977) on one occasion during a daytime nap. Experimental Protocol The study was divided into two parts: (1) a daytime respiratory function study, and (2) a 24 hr polygraphic recording. These were usually completed within a week of each other. Respiratory Function Study During the Daytime
The following functions were measured: 1. Spirometry was performed, using a bell spirometer. From the tracing, values were obtained for the forced vital capacity (FVC), forced expiratory volumes at 1 and 3 sec (FEVJ and FEV 3 ), maximum expiratory flow rate (MEFR), and maximum midexpiratory flow rate (MMFR). Maximum voluntary ventilation
Sleep. Vol. 1, No.1. September 1978
~
~
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~
;:t..
TABLE 1. Clinical features of patients with myotonic dystrophy
::j
a
Patient Patient data Sex
B
C
D
E
F
M
M
M
M
M
M
Age
28
26
28
17
20
34
Weight (kg)
68.2
59.1
65.9
66.9
50.2
58.5
Height (cm) Age of onset (yrs)
170
168
170
188
171
172
14
I3
15
II
II
16
Functional grade
'";;;
© Raven Press, New York
Respiratory and Hemodynamic Study During Wakefulness and Sleep in Myotonic Dystrophy *Christian Guilleminault, t Joseph Cummiskey, Horge Motta, and tPatricia Lynne-Davies *Sleep Disorders Clinic, tDivision of Respiratory Medicine, and tDivision of Cardiology, Stanford University School of Medicine, Stanford, California
INTRODUCTION Daytime hypersomnolence is frequently reported by patients with myotonic dystrophy (Coccagna et aI., 1975; Goldenberg et aI., 1977), Kilburn et a1. (1959) suggested that alveolar hypoventilation secondary to respiratory muscle weakness, a commOn finding in these patients, might explain the hypersomnolence. Coccagna et a1. (1975) and Goldenberg et a1. (1977) suggested the involvement of a central neurogenic abnormality in the appearance of this symptom. Rapid eye movement (REM) sleep periods at onset of sleep, seen in narcoleptics, also occur in these patients, suggesting a common abnormality. A further possibility is that a central neurogenic dysfunction resulting in hypo ventilation and sleep-wake cycle disruption may be responsible for the symptomatology. Accordingly, respiratory and hemodynamic studies during sleep and wakefulness were appraised in six patients with grade I (disease mild) (Gillam et aI., 1964) myotonic dystrophy, whose excessive daytime somnolence previously had been extensively documented by several 36 hr polygraphic recordings (Guilleminault et aI., 1978a). METHODS
Patients The patients were six young adult men with a mean age of25.5 years (range, 171 to 34) who gave informed consent to participate in the study. Their mean weight was 613 kg (range, 50.2 to 68.2) and mean height was 173 cm (range, 168 to 188) (see Table 1). They had been followed at Stanford University Medical Centerfor a mean of 3.6 years (range, 1 to 5). All patients presented with grade I myotonic Address infOTmation and reprint requests to Dr. Guilleminault, Sleep Disorders Clinic, Stanford University School of Medicine, Stanfon;l, California 94305. Key words: Myotonic dystrophy-Sleep apnea-Hemodynamic monitoring-Arrhythmia during sleep. I Informed consent given by patient and parents.
19
20
C. GUILLEMINAULT ET AL.
3min.
FLUSH
FIG. 1. Continuous arterial P0 2 monitoring during NREM sleep in patient A. This patient had repetitive apneic episodes with continuous oscillation of oxygen levels. Arterial P0 2 varied between 60 and 70 mm Hg during air exchange and dropped to 40 to 50 mm Hg during each apneic event. The distance from trough to trough is indicative of the duration of each abnormal respiratory cycle.
dystrophy syndrome and had noted symptoms for a mean of 12 years (range, 6 to 18). They were all socially active and employed or in school. Muscular involvement was considered mild to moderate. Patient D had a typical mechanical and electric myotonic reaction but no decrease in muscle strength. Patients Band E had the most important muscle deficit, essentially facio-scapulo-humeral in location. Their diagnoses were based on clinical symptoms; in addition, electromyography and limb muscle biopsies had been performed prior to their acceptance into the study. Chest X-ray film, 12-lead electrocardiogram (ECG), and routine laboratory studies including endocrinologic investigations and ophthalmologic evaluations were done before the study. All patients reported daytime sleepiness; only one (patient F) had had a sleep onset REM period (Coccagna et aI., 1975; Goldenberg et aI., 1977) on one occasion during a daytime nap. Experimental Protocol The study was divided into two parts: (1) a daytime respiratory function study, and (2) a 24 hr polygraphic recording. These were usually completed within a week of each other. Respiratory Function Study During the Daytime
The following functions were measured: 1. Spirometry was performed, using a bell spirometer. From the tracing, values were obtained for the forced vital capacity (FVC), forced expiratory volumes at 1 and 3 sec (FEVJ and FEV 3 ), maximum expiratory flow rate (MEFR), and maximum midexpiratory flow rate (MMFR). Maximum voluntary ventilation
Sleep. Vol. 1, No.1. September 1978
~
~
"tl
~
;:t..
TABLE 1. Clinical features of patients with myotonic dystrophy
::j
a
Patient Patient data Sex
B
C
D
E
F
M
M
M
M
M
M
Age
28
26
28
17
20
34
Weight (kg)
68.2
59.1
65.9
66.9
50.2
58.5
Height (cm) Age of onset (yrs)
170
168
170
188
171
172
14
I3
15
II
II
16
Functional grade
'";;;
