Not sure
it's Pompe?

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 doctor 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 Mobile_LightDot Mobile_LightDot Mobile_LightDot Mobile_LightDot Mobile_LightDot
Duchenne
Muscular Dystrophy
1.7-8.2 per 100,000
Mobile_LightDot Mobile_LightDot Mobile_LightDot Mobile_LightDot Mobile_LightDot Mobile_LightDot
Limb-Girdle
Muscular Dystrophy
0.8-6.9 per 100,000
Mobile_LightDot Mobile_LightDot Mobile_LightDot


Myasthenia Gravis
20 per 100,000
Mobile_LightDot Mobile_LightDot
Mobile_LightDot Mobile_LightDot Mobile_LightDot
Inflammatory Myopathy
14 to 25 per 100,000
Mobile_LightDot
Mobile_LightDot
Mobile_LightDot Mobile_LightDot
Polymyositis
2.7 to 70 per 100,000
Mobile_LightDot Mobile_LightDot Mobile_LightDot
Mobile_LightDot Mobile_LightDot
Pompe disease
2.5 per 100,000
Mobile_DarkDot Mobile_DarkDot Mobile_DarkDot Mobile_DarkDot Mobile_DarkDot Mobile_DarkDot

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?

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 doctor.

Check all the symptoms you recognize

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 doctor. 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.

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.

Know your symptoms.

No symptom you're experiencing is unimportant. If you feel your symptoms have gotten worse over time, be sure to contact your doctor. 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].

It’s not in your head talk to your doctor about symptoms.

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 doctor and share the symptoms you have been experiencing.

Talk to your healthcare professional about getting tested.

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 doctor 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...

Know your symptoms.

No symptom you're experiencing is unimportant. If you feel your symptoms have gotten worse over time, be sure to contact your doctor. 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.

It’s not in your head talk to your doctor about symptoms.

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 doctor and share the symptoms you have been experiencing.

Talk to your healthcare professional about getting tested.

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 doctor 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?

Symptom Checker

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

(Please check all symptoms you recognize)

Have you or the person you care for...

QUESTION 1

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.

Symptom Checker

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

(Please check all symptoms you recognize)

Have you or the person you care for...

Question 2

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.

Symptom Checker

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

(Please check all symptoms you recognize)

Have you or the person you care for...

Symptom Checker

Question 3

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.

Symptom Checker

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

(Please check all symptoms you recognize)

Have you or the person you care for...

Symptom Checker

Question 4

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.

Symptom Checker

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

(Please check all symptoms you recognize)

Have you or the person you care for...

Symptom Checker

Question 5

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.

Symptom Checker

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

1

2

3

4

5

6

(Please check all symptoms you recognize)

Have you or the person you care for...

Symptom Checker

Question 6

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.