Respiratory function in facioscapulohumeral muscular dystrophy 1

Autor: S.M. van der Maarel, E.L. van der Kooi, H.J. Gilhuis, B.G.M. van Engelen, George W. Padberg, Corinne G.C. Horlings, M. Wohlgemuth, Jan C.M. Hendriks, Yvonne F. Heijdra
Rok vydání: 2017
Předmět:
0301 basic medicine
Adult
Male
Vital capacity
medicine.medical_specialty
Scoliosis
Pulmonary function testing
Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18]
Cohort Studies
03 medical and health sciences
0302 clinical medicine
Risk Factors
Internal medicine
Medicine
Facioscapulohumeral muscular dystrophy
Humans
Respiratory function
Kyphosis
Respiratory system
Genetics (clinical)
business.industry
Respiratory dysfunction
Middle Aged
medicine.disease
Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]
Muscular Dystrophy
Facioscapulohumeral
Surgery
Respiratory Function Tests
030104 developmental biology
Neurology
Wheelchairs
Pediatrics
Perinatology and Child Health
Ambulatory
Cardiology
Disease Progression
Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5]
Female
Neurology (clinical)
business
Respiratory Insufficiency
030217 neurology & neurosurgery
Zdroj: Neuromuscular Disorders, 27, 526-530
Neuromuscular Disorders, 27, 6, pp. 526-530
ISSN: 0960-8966
Popis: Item does not contain fulltext To test the hypothesis that wheelchair dependency and (kypho-)scoliosis are risk factors for developing respiratory insufficiency in facioscapulohumeral muscular dystrophy, we examined 81 patients with facioscapulohumeral muscular dystrophy 1 of varying degrees of severity ranging from ambulatory patients to wheelchair-bound patients. We examined the patients neurologically and by conducting pulmonary function tests: Forced Vital Capacity, Forced Expiratory Volume in 1 second, and static maximal inspiratory and expiratory mouth pressures. We did not find pulmonary function test abnormalities in ambulant facioscapulohumeral muscular dystrophy patients. Even though none of the patients complained of respiratory dysfunction, mild to severe respiratory insufficiency was found in more than one third of the wheelchair-dependent patients. Maximal inspiratory pressures and maximal expiratory pressures were decreased in most patients, with a trend that maximal expiratory pressures were more affected than maximal inspiratory pressures. Wheelchair-dependent patients with (kypho-)scoliosis showed the most restricted lung function. Wheelchair-dependent patients with (kypho-)scoliosis are at risk for developing respiratory function impairment. We advise examining this group of facioscapulohumeral muscular dystrophy patients periodically, even in the absence of symptoms of respiratory insufficiency, given its frequency and impact on daily life and the therapeutic consequences.
Databáze: OpenAIRE
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