Glycogen storage disease type II secondary prevention: Difference between revisions
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*There should be a careful use of over-the-counter medications and concomitant medications. | *There should be a careful use of over-the-counter medications and concomitant medications. | ||
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*Monitor for arrhythmias, including in patients on enzyme replacement therapy. | *Monitor for arrhythmias, including in patients on enzyme replacement therapy. | ||
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*All [[pulmonary]] [[infections]] should be aggressively managed. | *All [[pulmonary]] [[infections]] should be aggressively managed. | ||
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*Encourage appropriate exercise in consultation with a [[Physical therapists|physical therapist]] with experience in GSD type 2. | *Encourage appropriate exercise in consultation with a [[Physical therapists|physical therapist]] with experience in GSD type 2. | ||
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*Educate the patient and family about the natural history and recommendations for intervention. | *Educate the patient and family about the natural history and recommendations for intervention. | ||
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*Perform [[Hearing test|hearing tests]] including behavioral assessment otoacoustic emissions, [[tympanometry]] and [[Auditory evoked potential|auditory evoked potentials]] (ABR/BAER) using air and bone conducted stimuli to establish a baseline and repeat age and condition appropriate [[hearing]] testing, annually, as clinically indicated and following the medical/surgical intervention. | *Perform [[Hearing test|hearing tests]] including behavioral assessment otoacoustic emissions, [[tympanometry]] and [[Auditory evoked potential|auditory evoked potentials]] (ABR/BAER) using air and bone conducted stimuli to establish a baseline and repeat age and condition appropriate [[hearing]] testing, annually, as clinically indicated and following the medical/surgical intervention. | ||
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*Avoidance of intubation, if possible. | *Avoidance of intubation, if possible. | ||
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Latest revision as of 20:00, 4 April 2018
Glycogen storage disease type II Microchapters |
Differentiating Glycogen storage disease type II from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
Effective measures for the secondary prevention of glycogen storage disease type 2 (GSD type 2) include general medical recommendations, cardiology recommendations, pulmonary recommendations, gastrointestinal/nutritional recommendations, musculoskeletal/functional/rehabilitation recommendations, neurological recommendations., and surgery/anesthesia recommendations.
Secondary Prevention
- Effective measures for the secondary prevention of glycogen storage disease type 2 (GSD type 2) include:[1]
- General medical care recommendations
- Cardiology recommendations
- Pulmonary recommendations
- Gastrointestinal/nutritional recommandations
- Musculoskeletal/functional/rehabilitation recommendation
- Neurological recommendations
- Surgery/anesthesia recommendations
General medical care recommendations |
|
Adapted from Genetics in Medicine |
Cardiology recommendations |
|
Adapted from Genetics in Medicine |
Pulmonary recommendations |
|
Adapted from Genetics in Medicine |
Gastrointestinal/nutritional recommandations |
|
Adapted from Genetics in Medicine |
Musculoskeletal/functional/rehabilitation recommendation |
|
Adapted from Genetics in Medicine |
Neurological recommendations |
|
Adapted from Genetics in Medicine |
Surgery/Anesthesia recommendations |
|
Adapted from Genetics in Medicine |
References
- ↑ ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ; et al. (2006). "Pompe disease diagnosis and management guideline". Genet Med. 8 (5): 267–88. doi:10.109701.gim.0000218152.87434.f3 Check
|doi=
value (help). PMC 3110959. PMID 16702877.