Respiratory insufficiency in neuronopathic and neuropathic disorders

Twenty-nine patients with a neuronopathic or neuropathic disorder werereferred for assessment of respiratory insufficiency between 1978 and 1994.Diagnoses included spinal muscular atrophy (6), chronic idiopathicdemyelinating neuropathy (4), Vialetto-van Laere syndrome (3), hereditarymotor and sensory neuropathy (3) and a miscellaneous group (5). We alsodescribe seven patients with Guillain-Barre syndrome (GBS) who requiredlong-term ventilatory support for over 6 months to 7 years after theinitial illness. Respiratory insufficiency occurred as a consequence ofrespiratory muscle weakness, impaired bulbar function and restrictive lungdefects. In some groups presentation was with progressive nocturnalhypoventilation culminating in acute respiratory failure. Five patientswith GBS or chronic idiopathic demyelinating neuropathy were weaned fromventilatory support up to 18 months after the initial illness. Theremaining 24 patients required continuous or nocturnal ventilatory supportusing intermittent positive-pressure ventilation (13), negative pressureventilation (4), nasal-mask-delivered intermittent positive-pressureventilation (4), nasal-mask-delivered continuous positive-pressureventilation (3), mouthpiece-assisted ventilation by day (2) and rocking bed(1). None have been weaned from support after a period of ventilationranging from one month to 10 years. Eight patients have subsequently died.