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Disease Profile
Glycogen storage disease type 2
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Antenatal
ICD-10
E74.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Pompe disease; Acid maltase deficiency disease; Aglucosidase alfa;
Categories
Heart Diseases; Nervous System Diseases; RDCRN
Summary
Glycogen storage disease type 2, also known as Pompe disease or acid maltase deficiency disease, is an
Glycogen storage disease type 2 is caused by variants (
In 2006, the U.S. Food and Drug Administration (FDA) approved the enzyme replacement therapy Myozyme as a treatment for all patients with glycogen storage disease type 2. Another similar drug called Lumizyme has recently been approved for the treatment this disease.[1][3][5] Additional treatment of Pompe disease is symptomatic and supportive and may include respiratory and feeding support and
Symptoms
The non-classic infantile form of glycogen storage disease type 2 usually presents within the first year of life. Initial symptoms may include delayed motor skills (crawling, sitting) and myopathy. Cardiomegaly may be present, but unlike the classic infantile form, cardiac failure does not typically occur. Muscle weakness may lead to serious, life-compromising breathing problems by early childhood.[2][4]
In the late onset form of glycogen storage disease type 2, symptoms may not be evident until childhood, adolescence, or adulthood. This form is usually milder than the infantile-onset form of the disorder. Most individuals experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing.[2]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Oligosacchariduria | 0010471 | |
Progressive proximal muscle weakness | 0009073 | |
30%-79% of people have these symptoms | ||
Areflexia |
Absent tendon reflexes
|
0001284 |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
Difficulty climbing stairs |
Difficulty walking up stairs
|
0003551 |
Difficulty walking |
Difficulty in walking
|
0002355 |
Elevated serum alanine aminotransferase | 0031964 | |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
EMG: myopathic abnormalities | 0003458 | |
Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ] |
0003546 |
Exertional dyspnea | 0002875 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Feeding difficulties in infancy | 0008872 | |
Glycogen accumulation in muscle fiber |
0030231 | |
Gowers sign | 0003391 | |
Heart murmur |
Heart murmurs
|
0030148 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Increased lactate dehydrogenase level | 0025435 | |
Left ventricular hypertrophy | 0001712 | |
Lower limb muscle weakness |
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs
[ more ] |
0007340 |
Motor delay | 0001270 | |
Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
Respiratory tract infection |
Respiratory infection
|
0011947 |
5%-29% of people have these symptoms | ||
Abnormal internal carotid artery morphology | 3000062 | |
Basilar artery calcification | 0031310 | |
Chronic pain |
Long-lasting pain
|
0012532 |
Cranial nerve paralysis | 0006824 | |
Diaphragmatic weakness |
Weak diaphragm
|
0009113 |
Difficulty in tongue movements | 0000183 | |
Dilatation of the cerebral artery | 0004944 | |
Difficulty articulating speech
|
0001260 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Facial hypotonia |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ] |
0000297 |
Fatigable weakness of respiratory muscles | 0030196 | |
Fatigable weakness of swallowing muscles | 0030195 | |
Generalized muscle weakness | 0003324 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hyperlordosis |
Prominent swayback
|
0003307 |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Impaired mastication |
Chewing difficulties
Chewing difficulty
Difficulty chewing
[ more ] |
0005216 |
Inability to walk | 0002540 | |
Infantile muscular hypotonia |
Decreased muscle tone in infant
|
0008947 |
Left ventricular outflow tract obstruction | 0032092 | |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Orthopnea | 0012764 | |
0000939 | ||
Drooping upper eyelid
|
0000508 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Respiratory failure | 0002878 | |
0002650 | ||
Shortened PR interval | 0005165 | |
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
Thoracic aortic aneurysm | 0012727 | |
Transient ischemic attack |
Mini stroke
|
0002326 |
Vasculitis |
Inflammation of blood vessel
|
0002633 |
1%-4% of people have these symptoms | ||
Atelectasis |
CauseDiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
Newborn Screening
TreatmentIndividuals with glycogen storage disease type 2 are best treated by a team of specialists (such as
Management Guidelines
FDA-Approved TreatmentsThe medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Organizations Providing General Support
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
Selected Full-Text Journal Articles
Press Releases
References
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