Glycogen storage disease type II secondary prevention: Difference between revisions
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{{Glycogen storage disease type II}} | {{Glycogen storage disease type II}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{Anmol}} | ||
==Overview== | ==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:<ref name="pmid16702877">{{cite journal| author=ACMG Work Group on Management of Pompe Disease. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ et al.| title=Pompe disease diagnosis and management guideline. | journal=Genet Med | year= 2006 | volume= 8 | issue= 5 | pages= 267-88 | pmid=16702877 | doi=10.109701.gim.0000218152.87434.f3 | pmc=3110959 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16702877 }} </ref> | |||
**General medical care recommendations | |||
**[[Cardiology]] recommendations | |||
**[[Pulmonary]] recommendations | |||
**[[Gastrointestinal]]/[[nutritional]] recommandations | |||
**[[Musculoskeletal]]/functional/rehabilitation recommendation | |||
**[[Neurological]] recommendations | |||
**[[Surgery]]/[[anesthesia]] recommendations | |||
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===General medical care recommendations=== | |||
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*There should be strict hand washing and aggressive management of [[infections]]. | |||
*Routine [[immunizations]], including [[pneumococcal vaccination]], should be used. | |||
*There should be [[influenza vaccination]] for patients and other household contacts and use of [[palivizumab]] when indicated. | |||
*There should be a careful use of over-the-counter medications and concomitant medications. | |||
|- | |||
| style="background:#DCDCDC;" + |<small>'''Adapted from Genetics in Medicine'''</small> | |||
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===Cardiology recommendations=== | |||
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*[[Chest x-ray]] at regular intervals. | |||
*Obtain an initial [[echocardiogram]] to evaluate the extent of [[cardiomyopathy]], at regular intervals. | |||
*Medical management may be useful based on the stage of [[cardiomyopathy]]. | |||
*Avoid drastic changes in fluid status, either through [[dehydration]] or [[fluid overload]]. | |||
*Obtain a twenty-four-hour ambulatory [[ECG]] at baseline and regular intervals as patients are at risk for life-threatening [[arrhythmias]]. | |||
*Monitor for arrhythmias, including in patients on enzyme replacement therapy. | |||
|- | |||
| style="background:#DCDCDC;" + |<small>'''Adapted from Genetics in Medicine'''</small> | |||
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===Pulmonary recommendations=== | |||
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*Clinical assessment of [[respiratory]] status, both asleep and awake, should be performed at each medical visit. | |||
*When feasible, assessment of [[Pulmonary function test|pulmonary function]] and gas exchange should be performed at diagnosis, annually, and at every visit or with changes in patients’ clinical condition. | |||
*[[Chest radiographs]] should be obtained upon diagnosis and when clinically indicated. | |||
*[[Polysomnography]] should be performed upon diagnosis and when clinically indicated in infantile and late-onset GSD type 2. | |||
*Maximizing clearance of airway secretions should routinely be performed. | |||
*Assessment of [[Spirometry|respiratory function]] during sleep needs to be made whenever the patient complains of [[daytime sleepiness]], unexplained [[fatigue]] or has observed [[apneas]] during [[sleep]], or when [[vital capacity]] falls below 40–50% predicted. | |||
*Supplemental [[oxygen]] and/or noninvasive [[positive pressure ventilation]] should be prescribed based on underlying ventilatory abnormalities such as [[hypoxemia]], [[obstructive sleep apnea]], and [[hypoventilation]]. Treatment modality should be based on a firm diagnosis of the type of [[respiratory]] events seen during sleep. | |||
*All [[pulmonary]] [[infections]] should be aggressively managed. | |||
|- | |||
| style="background:#DCDCDC;" + |<small>'''Adapted from Genetics in Medicine'''</small> | |||
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===Gastrointestinal/nutritional recommandations=== | |||
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*Obtain videofluoroscopic swallowing assessment and evaluation for [[gastroesophageal reflux]] to guide management of feeding (oral/gavage feeding) at baseline and as clinically indicated. | |||
*Provide oral stimulation and non-nutritive sucking for infants who are nonoral feeders. | |||
*Monitor growth parameters carefully. | |||
*Provide adequate [[nutrition]] (high protein consisting of 20–25% protein) with attention to [[vitamins]] and [[minerals]]. | |||
*Encourage appropriate exercise in consultation with a [[Physical therapists|physical therapist]] with experience in GSD type 2. | |||
|- | |||
| style="background:#DCDCDC;" + |<small>'''Adapted from Genetics in Medicine'''</small> | |||
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===Musculoskeletal/functional/rehabilitation recommendation=== | |||
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*Monitor cardiorespiratory status and response to position and activity with [[pulse oximetry]] during evaluation and treatment initially and with changes in status or activity. | |||
*Screen for [[osteopenia]]/[[osteoporosis]] with [[DEXA scan|DEXA]] and follow-up as needed. | |||
*Assess [[musculoskeletal]] impairments, functional deficits, levels of disability, and societal participation at regular intervals and as needed, including [[Radiograph|radiographs]] as needed for monitoring of [[scoliosis]], hip stability, and long bone integrity. | |||
*Enhance muscle function: | |||
**Increase biomechanical advantage for movement. | |||
**Provide practice, movement, and gentle strengthening within limits of physiological stability. | |||
**Provide rests as needed to avoid overexertion. | |||
**Follow Guidelines For Strengthening From Other Progressive Muscle Diseases: | |||
***Submaximal, functional, and aerobic exercise recommended. | |||
***Avoid excessive resistive and eccentric exercise. | |||
***Avoid overwork weakness. | |||
***Avoid disuse atrophy. | |||
**Allow compensatory movements necessary for function, but prevent negative results ([[contracture]] and [[deformity]]). | |||
**Prevent/minimize/correct secondary musculoskeletal Impairment ([[contracture]]/[[deformity]]): | |||
***Stretching/positioning. | |||
***Orthotic intervention and splinting. | |||
***Seating systems/standers. | |||
*Optimize function with adaptation and assistive technology as needed. | |||
*Educate the patient and family about the natural history and recommendations for intervention. | |||
|- | |||
| style="background:#DCDCDC;" + |<small>'''Adapted from Genetics in Medicine'''</small> | |||
|- | |||
| | |||
===Neurological recommendations=== | |||
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*[[Motor]] and functional assessments are recommended to establish a baseline with repeat testing at 3–6 month intervals for children under age five years, and annually in older children and adults, except where additional testing is clinically indicated by a change in function or failure to make expected progress. | |||
*Perform needle [[electromyography]] ([[EMG]]) in initial evaluation to determine the presence of denervation as evidence of [[Anterior horn cells|anterior horn cell]] involvement. | |||
*Perform [[nerve conduction studies]] at initial evaluation. | |||
*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. | |||
|- | |||
| style="background:#DCDCDC;" + |<small>'''Adapted from Genetics in Medicine'''</small> | |||
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===Surgery/Anesthesia recommendations=== | |||
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*The [[anesthetic]] procedure only when absolutely necessary. | |||
*Consolidation of procedures requiring [[anesthesia]], to reduce the risk of repeated [[anesthetic]] exposures. | |||
*Judicious use of [[anesthetics]], with precautions followed due to underlying [[cardiomyopathy]]. | |||
*Procedures at centers with experience anesthetizing patients with GSD type 2 or consulting with experts. | |||
*Avoidance of intubation, if possible. | |||
|- | |||
| style="background:#DCDCDC;" + |<small>'''Adapted from Genetics in Medicine'''</small> | |||
|} | |||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Up-To-Date]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Metabolic disorders]] | |||
{{WS}} | {{WS}} | ||
{{WH}} | {{WH}} |
Latest revision as of 20:00, 4 April 2018
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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.