Glycogen storage disease type II secondary prevention: Difference between revisions
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==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== | ==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> | *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 | **General medical care recommendations | ||
**Cardiology recommendations | **[[Cardiology]] recommendations | ||
**Pulmonary recommendations | **[[Pulmonary]] recommendations | ||
**Gastrointestinal/nutritional recommandations | **[[Gastrointestinal]]/[[nutritional]] recommandations | ||
**Musculoskeletal/functional/rehabilitation recommendation | **[[Musculoskeletal]]/functional/rehabilitation recommendation | ||
**Neurological recommendations | **[[Neurological]] recommendations | ||
**[[Surgery]]/[[anesthesia]] recommendations | |||
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*There should be strict hand washing and aggressive management of infections. | *There should be strict hand washing and aggressive management of [[infections]]. | ||
*Routine immunizations, including pneumococcal vaccination, should be used. | *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 [[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. | *There should be a careful use of over-the-counter medications and concomitant medications. | ||
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*Chest x-ray at regular intervals. | *[[Chest x-ray]] at regular intervals. | ||
*Obtain an initial echocardiogram to evaluate the extent of cardiomyopathy, 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. | *Medical management may be useful based on the stage of [[cardiomyopathy]]. | ||
*Avoid drastic changes in fluid status, either through dehydration or fluid overload. | *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. | *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. | *Monitor for arrhythmias, including in patients on enzyme replacement therapy. | ||
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| style="background:#DCDCDC;" + |<small>''' | | style="background:#DCDCDC;" + |<small>'''Adapted from Genetics in Medicine'''</small> | ||
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*Clinical assessment of respiratory status, both asleep and awake, should be performed at each medical visit. | *Clinical assessment of [[respiratory]] status, both asleep and awake, should be performed at each medical visit. | ||
*When feasible, assessment of pulmonary function and gas exchange should be performed at diagnosis, annually, and at every visit or with changes in patients’ clinical condition. | *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. | *[[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 | *[[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. | *Maximizing clearance of airway secretions should routinely be performed. | ||
*Assessment of 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. | *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. | *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. | *All [[pulmonary]] [[infections]] should be aggressively managed. | ||
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*Obtain videofluoroscopic swallowing assessment and evaluation for | *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. | *Provide oral stimulation and non-nutritive sucking for infants who are nonoral feeders. | ||
*Monitor growth parameters carefully. | *Monitor growth parameters carefully. | ||
*Provide adequate nutrition (high protein consisting of 20–25% protein) with attention to vitamins and minerals. | *Provide adequate [[nutrition]] (high protein consisting of 20–25% protein) with attention to [[vitamins]] and [[minerals]]. | ||
*Encourage appropriate exercise in consultation with a physical therapist with experience in | *Encourage appropriate exercise in consultation with a [[Physical therapists|physical therapist]] with experience in GSD type 2. | ||
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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. | *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 and follow-up as needed. | *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 radiographs as needed for monitoring of scoliosis, hip stability, and long bone integrity. | *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 | *Enhance muscle function: | ||
**Increase biomechanical advantage for movement. | **Increase biomechanical advantage for movement. | ||
**Provide practice, movement, and gentle strengthening within limits of physiological stability. | **Provide practice, movement, and gentle strengthening within limits of physiological stability. | ||
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***Avoid overwork weakness. | ***Avoid overwork weakness. | ||
***Avoid disuse atrophy. | ***Avoid disuse atrophy. | ||
**Allow compensatory movements necessary for function, but prevent negative results (contracture and deformity). | **Allow compensatory movements necessary for function, but prevent negative results ([[contracture]] and [[deformity]]). | ||
**Prevent/ | **Prevent/minimize/correct secondary musculoskeletal Impairment ([[contracture]]/[[deformity]]): | ||
***Stretching/positioning. | ***Stretching/positioning. | ||
***Orthotic intervention and splinting. | ***Orthotic intervention and splinting. | ||
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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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| style="background:#DCDCDC;" + |<small>''' | | style="background:#DCDCDC;" + |<small>'''Adapted from Genetics in Medicine'''</small> | ||
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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. | *[[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 cell involvement. | *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 [[nerve conduction studies]] at initial evaluation. | ||
*Perform hearing tests including behavioral assessment otoacoustic emissions, tympanometry and auditory evoked potentials (ABR/BAER) using air and bone conducted stimuli to establish 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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*The anesthetic procedure only when absolutely necessary. | *The [[anesthetic]] procedure only when absolutely necessary. | ||
*Consolidation of procedures requiring anesthesia, to reduce risk of repeated anesthetic exposures. | *Consolidation of procedures requiring [[anesthesia]], to reduce the risk of repeated [[anesthetic]] exposures. | ||
*Judicious use of anesthetics, with precautions followed due to underlying cardiomyopathy. | *Judicious use of [[anesthetics]], with precautions followed due to underlying [[cardiomyopathy]]. | ||
*Procedures at centers with experience anesthetizing patients with | *Procedures at centers with experience anesthetizing patients with GSD type 2 or consulting with experts. | ||
*Avoidance of intubation, if possible. | *Avoidance of intubation, if possible. | ||
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| style="background:#DCDCDC;" + |<small>''' | | style="background:#DCDCDC;" + |<small>'''Adapted from Genetics in Medicine'''</small> | ||
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==References== | ==References== | ||
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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.