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Respiratory function in facioscapulohumeral muscular dystrophy 1.

M Wohlgemuth1, C G C Horlings1, E L van der Kooi2

  • 1Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

Neuromuscular Disorders : NMD
|April 19, 2017
PubMed
Summary

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This summary is machine-generated.

Wheelchair dependency and (kypho-)scoliosis increase respiratory insufficiency risk in facioscapulohumeral muscular dystrophy patients. Regular pulmonary function testing is recommended for wheelchair-dependent individuals, even without symptoms.

Area of Science:

  • Neurology
  • Pulmonology
  • Genetics

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) is a progressive genetic myopathy.
  • Respiratory insufficiency is a significant complication in advanced FSHD.
  • The role of wheelchair dependency and spinal deformity in respiratory decline is not fully elucidated.

Purpose of the Study:

  • To investigate wheelchair dependency and (kypho-)scoliosis as risk factors for respiratory insufficiency in FSHD.
  • To assess pulmonary function in FSHD patients across a spectrum of disease severity.

Main Methods:

  • Neurological examination and pulmonary function tests (Forced Vital Capacity, Forced Expiratory Volume in 1 second, maximal inspiratory/expiratory mouth pressures) were performed on 81 FSHD patients.
  • Patients were categorized based on ambulatory status and wheelchair dependency.
Keywords:
FSHD1Facioscapulohumeral muscular dystrophyPulmonary functionRespiratory muscles

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Main Results:

  • No pulmonary function abnormalities were detected in ambulatory FSHD patients.
  • Over one-third of wheelchair-dependent FSHD patients exhibited mild to severe respiratory insufficiency, often asymptomatic.
  • Maximal expiratory pressures were more reduced than maximal inspiratory pressures.
  • Wheelchair-dependent patients with (kypho-)scoliosis demonstrated the most significant lung function impairment.

Conclusions:

  • Wheelchair dependency and (kypho-)scoliosis are significant risk factors for respiratory impairment in FSHD.
  • Periodic pulmonary function monitoring is crucial for wheelchair-dependent FSHD patients, irrespective of symptoms.
  • Early detection and management of respiratory dysfunction are vital due to potential impacts on quality of life and therapeutic options.