Diagnosis survey

Diagnosis survey

Note: As of August 2001, we are NOT accepting new surveys. Therefore the submit button has been removed. The survey questions remain online so visitors can read and compare them with the survey results pages.

Surveys are only for patients with biochemical confirmation of CPT II deficiency. Diagnosis is confirmed by enzymatic analysis of muscle tissue or cultured skin fibroblasts, or by mutation screening. Incomplete surveys will not be tabulated.

1. At what age did you begin having symptoms of CPT II deficiency?

2. At what age did you begin seeking a diagnosis?

3. At what age did you receive a diagnosis?

4. How many physicians did you see before you received a diagnosis?

What were their fields of speciality?
family practice
internal medicine
neurology
rheumatology
sports medicine
pediatrics
endocrinology
genetics

5. Were you given an incorrect diagnosis prior to receiving a diagnosis of CPT II deficiency?

yes no If yes, what was it?

6. How was your diagnosis confirmed?

enzyme analysis of muscle tissue
enzyme analysis of cultured skin fibroblasts
mutation identification

7. In addition to CPT II, were other enzymes measured at the time of diagnosis?

yes no don't know
If yes, which enzymes?
Were other enzymes deficient?

8. Were additional tests performed at the time of diagnosis to evaluate muscle or metabolic function?

electromyogram (EMG)
electrocardiogram (EKG)
fast
organic acids
lactic acid
ketones
amino acids
exercise test
glucose tolerance

9. At the time of diagnosis did your physician:

provide information about CPT II deficiency?  yes no
offer treatment options?  yes no
offer guidelines for daily management?  yes no

10. Have you benefited physically from having a diagnosis?

yes no
If yes, in what way?

Read the current diagnosis survey results.