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Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients.

Abstract：

:Pompe disease is an inherited metabolic, neuromuscular disorder. With the introduction of enzyme replacement therapy skeletal muscle and respiratory function can be stabilized or improved. Additional physiotherapy to advance physical functioning of patients might be beneficial, but evidence and guidelines are lacking. In order to get an insight into current practices of referral and treatment, and perceived benefit, we performed a survey among 88 Dutch adult Pompe patients and 31 physiotherapists. Sixty percent of patients were ever referred for physiotherapy, whereas currently less than 40% receive physiotherapy. Approximately 50% of patients were referred for loss of muscle strength; while 74% received muscle strengthening exercises, often combined with aerobic endurance training. In 47% of patients the intervention did not match the referral reason. More than two-thirds of patients and physiotherapists perceived physiotherapy as beneficial, and the majority highlighted the need for guidance. Physiotherapeutic care can be improved by tailoring interventions to referral reasons and treatment objectives. More high quality studies are urgently needed to assess which interventions are most useful in this patient group.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Favejee MM,Huisstede BM,Bussmann JB,Kruijshaar ME,van der Ploeg AT

doi

10.1016/j.ymgme.2012.07.014

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

111-5

issue

1-2

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(12)00270-3

journal_volume

107

pub_type

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