(please check all symptoms you recognize)
You’re facing weakness and uncertainty, and you’re not sure it's Pompe. The signs and symptoms of Pompe disease can overlap with other neuromuscular diseases.
Quite often the diagnosis is not clear-cut and will rely on the various tests, including blood and genetic tests, that your healthcare provider may request.
Here are some of the diseases that may have similar signs and symptoms as Pompe disease.
Please note: the symptoms listed below are not an exhaustive list and may not be inclusive of all symptoms that someone with these diseases may encounter.
| Muscle Weakness | Abnormal Gait or Difficulty Walking | Elevated Creatine Kinase | Respiratory Insufficiency | Difficulty Swallowing | Exercise Intolerance | |
| Myopathy, General |   |
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| Duchenne Muscular Dystrophy 1.7-8.2 per 100,000 |
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| Limb-Girdle Muscular Dystrophy 0.8-6.9 per 100,000 |
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| Myasthenia Gravis 20 per 100,000 |
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| Inflammatory Myopathy 14 to 25 per 100,000 |
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| Polymyositis 2.7 to 70 per 100,000 |
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| Pompe disease 2.5 per 100,000 |
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For more information on the diagnosis of Pompe disease, visit Diagnosing Infantile-Onset Pompe Disease and Diagnosing Late-Onset Pompe Disease
Could it be
POMPE Disease?
Use the Symptom Checker to see if symptoms you or your loved one are experiencing may be due to Pompe disease SYMPTOM CHECKER
Resources
Downloadable resources and links to better understand the Pompe disease spectrum.
Trust how you feel
If you or a family member has had some unexplained symptoms that are getting worse over time, you may be concerned about what’s going on. Although Pompe disease is rare, it is a good idea to discuss any health concerns you may have with your healthcare provider.
If any of the following symptoms seem familiar, they could be signs of a neuromuscular disorder. Use the following Symptom Checker to see which symptoms of Pompe disease you or a family member may be experiencing. Please check all boxes that apply.
Once you finish, the Symptom Checker will generate a summary report based on your answers. You are encouraged to print your report and share it with your healthcare provider. Your answers may help them understand your situation and choose the proper tests. Or they may refer you to a specialist with experience in Pompe disease.
Use the Symptom Checker to see if symptoms you or your loved one are experiencing may be due to Pompe disease
If the symptoms presented in this questionnaire seem familiar, talk to your healthcare professional about Pompe disease testing options. Speak up. It’s time to get answers.
No symptom you're experiencing is unimportant. If you feel your symptoms have gotten worse over time, be sure to contact your healthcare provider. Symptom progression is a hallmark of Pompe disease. For more information on the signs and symptoms of infantile-onset (IOPD) Pompe disease, visit Signs & Symptoms: IOPD. [LINK TO: 1.1.1 Signs and Symptoms: IOPD] For more information on the signs and symptoms of late-onset (LOPD) Pompe disease, visit Signs & Symptoms: LOPD [LINK TO: 1.2.1 Signs and Symptoms: LOPD].
Although physical changes may seem unrelated, Pompe disease presents itself in many ways. To learn more about the diagnosis of infantile-onset Pompe disease, visit Diagnostic Journey: IOPD [LINK TO: 1.1.2 Diagnostic Journey: IOPD]. To learn more about the diagnosis of late-onset Pompe disease, visit Diagnostic Journey: LOPD [LINK TO: 1.2.2 Diagnostic Journey: LOPD]. Be sure to speak with your healthcare provider and share the symptoms you have been experiencing.
There are several different tests that your healthcare provider may use to narrow down the possible causes of your symptoms—from muscle strength, movement, and breathing tests to a specific, blood-based assay or genetic testing. Your healthcare provider will determine which test is best for you. For more information on testing options for infantile-onset Pompe disease, visit Testing Options: IOPD [Link to: 1.1.3 Testing Options: IOPD]. For more information on testing options for late-onset Pompe disease, visit Testing Options: LOPD
Here's the summary of your answers.
Have you or the person you care for...
Could it be Pompe disease?
Trust your instincts
If the symptoms presented in this questionnaire seem familiar, talk to your healthcare professional about Pompe disease testing options. Speak up. It’s time to get answers.
Please note: The following screening questions are not intended as a diagnostic tool for Pompe disease.
Privacy: We value your privacy. That’s why no data from these questions are being captured or stored.
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(Please check all symptoms you recognize)
Have you or the person you care for...
Could it be Pompe disease?
Trust your instincts
If the symptoms presented in this questionnaire seem familiar, talk to your healthcare professional about Pompe disease testing options. Speak up. It’s time to get answers.
Please note: The following screening questions are not intended as a diagnostic tool for Pompe disease.
Privacy: We value your privacy. That’s why no data from these questions are being captured or stored.
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Have you or the person you care for...
(Please check all symptoms you recognize)
Could it be Pompe disease?
Trust your instincts
If the symptoms presented in this questionnaire seem familiar, talk to your healthcare professional about Pompe disease testing options. Speak up. It’s time to get answers.
Please note: The following screening questions are not intended as a diagnostic tool for Pompe disease.
Privacy: We value your privacy. That’s why no data from these questions are being captured or stored.
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Have you or the person you care for...
(Please check all symptoms you recognize)
No symptom you're experiencing is unimportant. If you feel your symptoms have gotten worse over time, be sure to contact your healthcare provider. Symptom progression is a hallmark of Pompe disease. For more information on the signs and symptoms of infantile-onset (IOPD) Pompe disease, visit Signs & Symptoms: IOPD. For more information on the signs and symptoms of late-onset (LOPD) Pompe disease, visit Signs & Symptoms: LOPD.
Although physical changes may seem unrelated, Pompe disease presents itself in many ways. To learn more about the diagnosis of infantile-onset Pompe disease, visit Diagnostic Journey: IOPD. To learn more about the diagnosis of late-onset Pompe disease, visit Diagnostic Journey: LOPD. Be sure to speak with your healthcare provider and share the symptoms you have been experiencing.
There are several different tests that your doctor may use to narrow down the possible causes of your symptoms—from muscle strength, movement, and breathing tests to a specific, blood-based assay or genetic testing. Your healthcare provider will determine which test is best for you. For more information on testing options for infantile-onset Pompe disease, visit Testing Options: IOPD. For more information on testing options for late-onset Pompe disease, visit Testing Options: LOPD.
Print or email these results so you can discuss the possible symptoms of Pompe disease with your healthcare provider
While your answers are not intended for diagnostic purposes, your healthcare provider can determine the best course of action and whether testing for Pompe disease should be considered.
Thank you for taking the time to complete this questionnaire.
Here’s the summary of your answers. No symptom you’re experiencing is unimportant, especially if your symptoms have gotten worse over time.
Have you or the person you care for...
[Question 1] been diagnosed with:
[Question 2] had any unexplained muscle weakness of the legs, arms, or neck and shoulders that made it hard to:
[Question 3] had any of these respiratory issues?
[Question 4] experienced any of the following, even after a good night’s sleep?
[Question 5] experienced any of the following, even after adjusting your eating habits or diet?
[Question 6] seen any of the following specialists in the past 5-10 years?
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Have you or the person you care for...
Trust your instincts
If the symptoms presented in this questionnaire seem familiar, talk to your healthcare professional about Pompe disease testing options. Speak up. It’s time to get answers.
Please note: The following screening questions are not intended as a diagnostic tool for Pompe disease.
Privacy: We value your privacy. That’s why no data from these questions are being captured or stored.
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(Please check all symptoms you recognize)
Have you or the person you care for...
Trust your instincts
If the symptoms presented in this questionnaire seem familiar, talk to your healthcare professional about Pompe disease testing options. Speak up. It’s time to get answers.
Please note: The following screening questions are not intended as a diagnostic tool for Pompe disease.
Privacy: We value your privacy. That’s why no data from these questions are being captured or stored.
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(Please check all symptoms you recognize)
Have you or the person you care for...
Trust your instincts
If the symptoms presented in this questionnaire seem familiar, talk to your healthcare professional about Pompe disease testing options. Speak up. It’s time to get answers.
Please note: The following screening questions are not intended as a diagnostic tool for Pompe disease.
Privacy: We value your privacy. That’s why no data from these questions are being captured or stored.
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Have you or the person you care for...
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(Please check all symptoms you recognize)
Have you or the person you care for...
Trust your instincts
If the symptoms presented in this questionnaire seem familiar, talk to your healthcare professional about Pompe disease testing options. Speak up. It’s time to get answers.
Please note: The following screening questions are not intended as a diagnostic tool for Pompe disease.
Privacy: We value your privacy. That’s why no data from these questions are being captured or stored.
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Have you or the person you care for...
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(Please check all symptoms you recognize)
Have you or the person you care for...
Trust your instincts
If the symptoms presented in this questionnaire seem familiar, talk to your healthcare professional about Pompe disease testing options. Speak up. It’s time to get answers.
Please note: The following screening questions are not intended as a diagnostic tool for Pompe disease.
Privacy: We value your privacy. That’s why no data from these questions are being captured or stored.
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Have you or the person you care for...
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(Please check all symptoms you recognize)
Have you or the person you care for...
Trust your instincts
If the symptoms presented in this questionnaire seem familiar, talk to your healthcare professional about Pompe disease testing options. Speak up. It’s time to get answers.
Please note: The following screening questions are not intended as a diagnostic tool for Pompe disease.
Privacy: We value your privacy. That’s why no data from these questions are being captured or stored.