Glycogen storage disease type II secondary prevention

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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:
  • General medical care recommendations
  • Cardiology recommendations
  • Pulmonary recommendations
  • Gastrointestinal/nutritional recommandations
  • Musculoskeletal/functional/rehabilitation recommendation
  • Neurological recommendations
  • Surgery/anesthesia recommendations

General medical care recommendations

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.

Adapted from Genetics in Medicine

Cardiology recommendations

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.

Adapted from Genetics in Medicine

Pulmonary recommendations

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. 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 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.

Adapted from Genetics in Medicine

Gastrointestinal/nutritional recommandations

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 therapist with experience in GSD type 2.

Adapted from Genetics in Medicine

Musculoskeletal/functional/rehabilitation recommendation

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. 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. 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.

Adapted from Genetics in Medicine

Neurological recommendations

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 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 a baseline and repeat age and condition appropriate hearing testing, annually, as clinically indicated and following the medical/surgical intervention.

Adapted from Genetics in Medicine

Surgery/Anesthesia recommendations

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.

Adapted from Genetics in Medicine