Your Child with Infantile-Onset Pompe Disease

Infantile-onset Pompe disease (IOPD) has a wide disease spectrum with varying organ involvement and degree of muscle impairment.

Although an IOPD diagnosis can be devastating, early detection, appropriate disease management, and supportive care may help overcome some of the challenges that this disorder presents to both the infant and the caregiver.

In the classic form of IOPD, the symptoms arise within the first few months of life. A suspicion of classic IOPD usually occurs due to the presence of an abnormal enlarged heart (cardiomegaly) and low muscle tone (hypotonia). This form is also characterized by an unusually large tongue (macroglossia) and abnormal enlargement of the liver (hepatomegaly). Rapidly progressive muscle weakness, including the muscles necessary for breathing, and advancing cardiomegaly, are expected during the clinical course of this disease, and can result in heart and respiratory failure before 1 to 2 years of age.

In the non-classic form of IOPD, the symptoms arise within the first year of life. Infants with non-classic IOPD predominantly suffer from decreased muscle tone, and do not have an enlarged heart. Liver and tongue enlargement are uncommon in these infants. During the clinical course of this disease the progression of muscle weakness leads to fatal breathing problems by early childhood.

After a baby has been diagnosed with IOPD the interval for clinical follow-ups and management strategy should be individualized, and frequent visits to healthcare providers should be expected. Furthermore, because this disorder affects multiple organs and body systems, IOPD is usually managed by a lead doctor who has experience with this disorder, and a supporting multidisciplinary team. A care team for an infant with IOPD may include:

  • A care coordinator who is a metabolic disease specialist or biochemical geneticist
  • Health care professionals from different specialties as needed according to the effects of the disease (cardiologist, pulmonologist, neurologist, physical therapist, etc)

It’s recommended that health care professionals who are part of the IOPD multidisciplinary care team have a full understanding of the disease, including the broad spectrum of signs, symptoms, and challenges that arise from them. Additionally, it is recommended that members of the care team understand the psychological and emotional impact of this disorder on infants, their families and caregivers.

As previously discussed, continuous monitoring of multiple parts of the body of your child with IOPD should be expected. Your child’s comprehensive care team may perform many of the recommended tests and assessments illustrated below based on clinical judgement.

This figure is an interactive infographic which highlights different portions of the body continually assessed in IOPD. General patient monitoring consists of medical history, clinical follow-up, physical examination, height, weight, head circumference, and body mass index. Heart monitoring consists of echocardiogram (a test that visualizes the heart to determine its size and how well it’s beating), electrocardiogram (a test that examines the electrical activity of the heart), and chest X-ray. Respiratory monitoring consists of various tests to determine how well the lungs are working and levels of a substance in the blood called bicarbonate, that indicate lung function. Motor function monitoring consists of functional and imaging tests to evaluate muscle structure and function including: motor status tests, whole body MRI and ultrasound. Hearing loss monitoring includes evaluations to determine the level of hearing ability and how well the ear functions (inner ear, eardrum) in response to sound. Cognitive development tests include the Denver Developmental Screening test and the Bayley Scales of Infant and Toddler Development. Motor Development monitoring includes the following tests which may be used to evaluate muscle function: Pompe Pediatric Evaluation of Disability Index, Alberta Infant Motor Scale, Test of Infant Motor Performance, and/or Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Monitoring of swallowing includes an imaging test to determine how well the muscles that help with swallowing are working. Laboratory Tests include blood and urine. For blood, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may be tested, which are enzymes that indicate how well the liver is functioning in addition to creatine kinase, including myocardial creatine kinase. Myocardial creatine kinase is an enzyme in the blood that may be indicative of muscle damage, including the heart muscle, and may be a sign of risk for disease progression in young patients. For Urine, the HEX4 portion of glucose tetrasaccharide, a component in urine that is indicative of glycogen accumulation and may be suggestive of tissue damage may be monitored.
This figure is an interactive infographic which highlights different portions of the body continually assessed in IOPD. General patient monitoring consists of medical history, clinical follow-up, physical examination, height, weight, head circumference, and body mass index. Heart monitoring consists of echocardiogram (a test that visualizes the heart to determine its size and how well it’s beating), electrocardiogram (a test that examines the electrical activity of the heart), and chest X-ray. Respiratory monitoring consists of various tests to determine how well the lungs are working and levels of a substance in the blood called bicarbonate, that indicate lung function. Motor function monitoring consists of functional and imaging tests to evaluate muscle structure and function including: motor status tests, whole body MRI and ultrasound. Hearing loss monitoring includes evaluations to determine the level of hearing ability and how well the ear functions (inner ear, eardrum) in response to sound. Cognitive development tests include the Denver Developmental Screening test and the Bayley Scales of Infant and Toddler Development. Motor Development monitoring includes the following tests which may be used to evaluate muscle function: Pompe Pediatric Evaluation of Disability Index, Alberta Infant Motor Scale, Test of Infant Motor Performance, and/or Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Monitoring of swallowing includes an imaging test to determine how well the muscles that help with swallowing are working. Laboratory Tests include blood and urine. For blood, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may be tested, which are enzymes that indicate how well the liver is functioning in addition to creatine kinase, including myocardial creatine kinase. Myocardial creatine kinase is an enzyme in the blood that may be indicative of muscle damage, including the heart muscle, and may be a sign of risk for disease progression in young patients. For Urine, the HEX4 portion of glucose tetrasaccharide, a component in urine that is indicative of glycogen accumulation and may be suggestive of tissue damage may be monitored.
This figure is an interactive infographic which highlights different portions of the body continually assessed in IOPD. General patient monitoring consists of medical history, clinical follow-up, physical examination, height, weight, head circumference, and body mass index. Heart monitoring consists of echocardiogram (a test that visualizes the heart to determine its size and how well it’s beating), electrocardiogram (a test that examines the electrical activity of the heart), and chest X-ray. Respiratory monitoring consists of various tests to determine how well the lungs are working and levels of a substance in the blood called bicarbonate, that indicate lung function. Motor function monitoring consists of functional and imaging tests to evaluate muscle structure and function including: motor status tests, whole body MRI and ultrasound. Hearing loss monitoring includes evaluations to determine the level of hearing ability and how well the ear functions (inner ear, eardrum) in response to sound. Cognitive development tests include the Denver Developmental Screening test and the Bayley Scales of Infant and Toddler Development. Motor Development monitoring includes the following tests which may be used to evaluate muscle function: Pompe Pediatric Evaluation of Disability Index, Alberta Infant Motor Scale, Test of Infant Motor Performance, and/or Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Monitoring of swallowing includes an imaging test to determine how well the muscles that help with swallowing are working. Laboratory Tests include blood and urine. For blood, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may be tested, which are enzymes that indicate how well the liver is functioning in addition to creatine kinase, including myocardial creatine kinase. Myocardial creatine kinase is an enzyme in the blood that may be indicative of muscle damage, including the heart muscle, and may be a sign of risk for disease progression in young patients. For Urine, the HEX4 portion of glucose tetrasaccharide, a component in urine that is indicative of glycogen accumulation and may be suggestive of tissue damage may be monitored.
This figure is an interactive infographic which highlights different portions of the body continually assessed in IOPD. General patient monitoring consists of medical history, clinical follow-up, physical examination, height, weight, head circumference, and body mass index. Heart monitoring consists of echocardiogram (a test that visualizes the heart to determine its size and how well it’s beating), electrocardiogram (a test that examines the electrical activity of the heart), and chest X-ray. Respiratory monitoring consists of various tests to determine how well the lungs are working and levels of a substance in the blood called bicarbonate, that indicate lung function. Motor function monitoring consists of functional and imaging tests to evaluate muscle structure and function including: motor status tests, whole body MRI and ultrasound. Hearing loss monitoring includes evaluations to determine the level of hearing ability and how well the ear functions (inner ear, eardrum) in response to sound. Cognitive development tests include the Denver Developmental Screening test and the Bayley Scales of Infant and Toddler Development. Motor Development monitoring includes the following tests which may be used to evaluate muscle function: Pompe Pediatric Evaluation of Disability Index, Alberta Infant Motor Scale, Test of Infant Motor Performance, and/or Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Monitoring of swallowing includes an imaging test to determine how well the muscles that help with swallowing are working. Laboratory Tests include blood and urine. For blood, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may be tested, which are enzymes that indicate how well the liver is functioning in addition to creatine kinase, including myocardial creatine kinase. Myocardial creatine kinase is an enzyme in the blood that may be indicative of muscle damage, including the heart muscle, and may be a sign of risk for disease progression in young patients. For Urine, the HEX4 portion of glucose tetrasaccharide, a component in urine that is indicative of glycogen accumulation and may be suggestive of tissue damage may be monitored.
This figure is an interactive infographic which highlights different portions of the body continually assessed in IOPD. General patient monitoring consists of medical history, clinical follow-up, physical examination, height, weight, head circumference, and body mass index. Heart monitoring consists of echocardiogram (a test that visualizes the heart to determine its size and how well it’s beating), electrocardiogram (a test that examines the electrical activity of the heart), and chest X-ray. Respiratory monitoring consists of various tests to determine how well the lungs are working and levels of a substance in the blood called bicarbonate, that indicate lung function. Motor function monitoring consists of functional and imaging tests to evaluate muscle structure and function including: motor status tests, whole body MRI and ultrasound. Hearing loss monitoring includes evaluations to determine the level of hearing ability and how well the ear functions (inner ear, eardrum) in response to sound. Cognitive development tests include the Denver Developmental Screening test and the Bayley Scales of Infant and Toddler Development. Motor Development monitoring includes the following tests which may be used to evaluate muscle function: Pompe Pediatric Evaluation of Disability Index, Alberta Infant Motor Scale, Test of Infant Motor Performance, and/or Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Monitoring of swallowing includes an imaging test to determine how well the muscles that help with swallowing are working. Laboratory Tests include blood and urine. For blood, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may be tested, which are enzymes that indicate how well the liver is functioning in addition to creatine kinase, including myocardial creatine kinase. Myocardial creatine kinase is an enzyme in the blood that may be indicative of muscle damage, including the heart muscle, and may be a sign of risk for disease progression in young patients. For Urine, the HEX4 portion of glucose tetrasaccharide, a component in urine that is indicative of glycogen accumulation and may be suggestive of tissue damage may be monitored.
This figure is an interactive infographic which highlights different portions of the body continually assessed in IOPD. General patient monitoring consists of medical history, clinical follow-up, physical examination, height, weight, head circumference, and body mass index. Heart monitoring consists of echocardiogram (a test that visualizes the heart to determine its size and how well it’s beating), electrocardiogram (a test that examines the electrical activity of the heart), and chest X-ray. Respiratory monitoring consists of various tests to determine how well the lungs are working and levels of a substance in the blood called bicarbonate, that indicate lung function. Motor function monitoring consists of functional and imaging tests to evaluate muscle structure and function including: motor status tests, whole body MRI and ultrasound. Hearing loss monitoring includes evaluations to determine the level of hearing ability and how well the ear functions (inner ear, eardrum) in response to sound. Cognitive development tests include the Denver Developmental Screening test and the Bayley Scales of Infant and Toddler Development. Motor Development monitoring includes the following tests which may be used to evaluate muscle function: Pompe Pediatric Evaluation of Disability Index, Alberta Infant Motor Scale, Test of Infant Motor Performance, and/or Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Monitoring of swallowing includes an imaging test to determine how well the muscles that help with swallowing are working. Laboratory Tests include blood and urine. For blood, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may be tested, which are enzymes that indicate how well the liver is functioning in addition to creatine kinase, including myocardial creatine kinase. Myocardial creatine kinase is an enzyme in the blood that may be indicative of muscle damage, including the heart muscle, and may be a sign of risk for disease progression in young patients. For Urine, the HEX4 portion of glucose tetrasaccharide, a component in urine that is indicative of glycogen accumulation and may be suggestive of tissue damage may be monitored.
This figure is an interactive infographic which highlights different portions of the body continually assessed in IOPD. General patient monitoring consists of medical history, clinical follow-up, physical examination, height, weight, head circumference, and body mass index. Heart monitoring consists of echocardiogram (a test that visualizes the heart to determine its size and how well it’s beating), electrocardiogram (a test that examines the electrical activity of the heart), and chest X-ray. Respiratory monitoring consists of various tests to determine how well the lungs are working and levels of a substance in the blood called bicarbonate, that indicate lung function. Motor function monitoring consists of functional and imaging tests to evaluate muscle structure and function including: motor status tests, whole body MRI and ultrasound. Hearing loss monitoring includes evaluations to determine the level of hearing ability and how well the ear functions (inner ear, eardrum) in response to sound. Cognitive development tests include the Denver Developmental Screening test and the Bayley Scales of Infant and Toddler Development. Motor Development monitoring includes the following tests which may be used to evaluate muscle function: Pompe Pediatric Evaluation of Disability Index, Alberta Infant Motor Scale, Test of Infant Motor Performance, and/or Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Monitoring of swallowing includes an imaging test to determine how well the muscles that help with swallowing are working. Laboratory Tests include blood and urine. For blood, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may be tested, which are enzymes that indicate how well the liver is functioning in addition to creatine kinase, including myocardial creatine kinase. Myocardial creatine kinase is an enzyme in the blood that may be indicative of muscle damage, including the heart muscle, and may be a sign of risk for disease progression in young patients. For Urine, the HEX4 portion of glucose tetrasaccharide, a component in urine that is indicative of glycogen accumulation and may be suggestive of tissue damage may be monitored.
This figure is an interactive infographic which highlights different portions of the body continually assessed in IOPD. General patient monitoring consists of medical history, clinical follow-up, physical examination, height, weight, head circumference, and body mass index. Heart monitoring consists of echocardiogram (a test that visualizes the heart to determine its size and how well it’s beating), electrocardiogram (a test that examines the electrical activity of the heart), and chest X-ray. Respiratory monitoring consists of various tests to determine how well the lungs are working and levels of a substance in the blood called bicarbonate, that indicate lung function. Motor function monitoring consists of functional and imaging tests to evaluate muscle structure and function including: motor status tests, whole body MRI and ultrasound. Hearing loss monitoring includes evaluations to determine the level of hearing ability and how well the ear functions (inner ear, eardrum) in response to sound. Cognitive development tests include the Denver Developmental Screening test and the Bayley Scales of Infant and Toddler Development. Motor Development monitoring includes the following tests which may be used to evaluate muscle function: Pompe Pediatric Evaluation of Disability Index, Alberta Infant Motor Scale, Test of Infant Motor Performance, and/or Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Monitoring of swallowing includes an imaging test to determine how well the muscles that help with swallowing are working. Laboratory Tests include blood and urine. For blood, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may be tested, which are enzymes that indicate how well the liver is functioning in addition to creatine kinase, including myocardial creatine kinase. Myocardial creatine kinase is an enzyme in the blood that may be indicative of muscle damage, including the heart muscle, and may be a sign of risk for disease progression in young patients. For Urine, the HEX4 portion of glucose tetrasaccharide, a component in urine that is indicative of glycogen accumulation and may be suggestive of tissue damage may be monitored.
This figure is an interactive infographic which highlights different portions of the body continually assessed in IOPD. General patient monitoring consists of medical history, clinical follow-up, physical examination, height, weight, head circumference, and body mass index. Heart monitoring consists of echocardiogram (a test that visualizes the heart to determine its size and how well it’s beating), electrocardiogram (a test that examines the electrical activity of the heart), and chest X-ray. Respiratory monitoring consists of various tests to determine how well the lungs are working and levels of a substance in the blood called bicarbonate, that indicate lung function. Motor function monitoring consists of functional and imaging tests to evaluate muscle structure and function including: motor status tests, whole body MRI and ultrasound. Hearing loss monitoring includes evaluations to determine the level of hearing ability and how well the ear functions (inner ear, eardrum) in response to sound. Cognitive development tests include the Denver Developmental Screening test and the Bayley Scales of Infant and Toddler Development. Motor Development monitoring includes the following tests which may be used to evaluate muscle function: Pompe Pediatric Evaluation of Disability Index, Alberta Infant Motor Scale, Test of Infant Motor Performance, and/or Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Monitoring of swallowing includes an imaging test to determine how well the muscles that help with swallowing are working. Laboratory Tests include blood and urine. For blood, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may be tested, which are enzymes that indicate how well the liver is functioning in addition to creatine kinase, including myocardial creatine kinase. Myocardial creatine kinase is an enzyme in the blood that may be indicative of muscle damage, including the heart muscle, and may be a sign of risk for disease progression in young patients. For Urine, the HEX4 portion of glucose tetrasaccharide, a component in urine that is indicative of glycogen accumulation and may be suggestive of tissue damage may be monitored.

General Patient Monitoring

POTENTIAL TESTING

  • Medical History
  • Clinical Follow-up
  • Physical Examination
  • Height
  • Weight
  • Head Circumference
  • Body Mass Index

Heart

POTENTIAL TESTING

  • Echocardiogram
  • A test that visualizes the heart to determine its size and how well it’s beating

  • Electrocardiogram
  • A test that examines the electrical activity of the heart

  • Chest X-ray

Respiratory

POTENTIAL TESTING

  • Various tests to determine how well the lungs are working
  • Levels of a substance in the blood called bicarbonate, that indicate lung function

Motor Functioning

POTENTIAL TESTING

  • Functional and imaging tests to evaluate muscle structure and function include: motor status tests, whole body MRI and ultrasound

Hearing Loss

POTENTIAL TESTING

  • Evaluations to determine the level of hearing ability and how well the ear functions (inner ear, eardrum) in response to sound

Cognitive Development

POTENTIAL TESTING

The following tests may be used to evaluate cognitive development

  • Denver Developmental Screening test
  • Bayley Scales of Infant and Toddler Development

Motor Development

POTENTIAL TESTING

The following tests may be used to evaluate muscle function:

  • Pompe Pediatric Evaluation of Disability Index
  • Alberta Infant Motor Scale
  • Test of Infant Motor Performance
  • Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders

Swallowing

POTENTIAL TESTING

  • Imaging test to determine how well the muscles that help with swallowing are working

Laboratory Tests

POTENTIAL TESTING

  • Blood
    • Alanine aminotransferase (ALT) and aspartate aminotransferase (AST): enzymes that indicate how well the liver is functioning
    • Creatine kinase, including myocardial creatine kinase: an enzyme in the blood that may be indicative of muscle damage, including the heart muscle, and may be a sign of risk for disease progression in young patients
  • Urine
    • HEX4 portion of glucose tetrasaccharide, a component in urine that is indicative of glycogen accumulation and may suggest tissue damage

If a diagnosis is confirmed, your doctor may consider the Pompe Registry for your child.

Registries have proven to be especially valuable in gathering information and contributing to scientific publications for rare diseases like Pompe disease.

The Pompe Registry is sponsored and administered by Sanofi Genzyme Corporation. Information submitted to the Pompe Registry will be maintained as confidential.