Example questionnaire
Here you can find a preview of the questions you will be asked if you sign up to the Global FKRP Registry. Please note that this preview contains all possible questions, including some that may not be relevant for you and which will be hidden when you register.
When filling in the real questionnaire online, you can click on the answers and enter your details in text boxes.
The main part of the questionnaire should be completed by you, or the parent/guardian if the patient is under 18 years of age. The section “Clinician questionnaire” will be completed by your doctor.
Both parts will be viewable by both patients and doctors once securely logged on.
What is your diagnosis?
Has this diagnosis been genetically confirmed?
What is the status of the genetic report?
Please upload the genetic report here
What is the e-mail address of the laboratory, hospital, or medical centre where the genetic report can be obtained?
Has a muscle biopsy been performed that confirmed the diagnosis?
When was this muscle biopsy performed?
Have you ever had a muscle MRI?
If available to you, please upload the report (but please do not upload the MRI images)
Do you know of any family members who have similar symptoms, or a diagnosis of LGMD2I/R9 or a different condition caused by a change in the FKRP gene?
FKRP is a gene that when mutated (faulty) can cause LGMDR9/LGMD2I or a more severe congenital muscular dystrophy (MDC1C). It is important to know if any other family members have similar conditions, or raised creatine kinase (muscle enzyme) levels, or the same diagnosis.
Are your biological parents genetically related to each other as second cousins or closer?
How would you describe your ethnicity?
When did the first symptoms of your FKRP-related condition appear?
Please select the approximate date:
Please enter the age:
Please select the period:
Which of the following symptoms did you or your family notice at that time?
When muscle weakness was noticed for the first time, where was this weakness located?
Which symptoms do you have currently, if applicable?
When did you first notice muscle weakness?
Please select the approximate date:
Please enter the age:
Please select the period:
When did you first notice falls?
Please select the approximate date:
Please enter the age:
Please select the period:
When did you first notice muscle fatigue?
Please select the approximate date:
Please enter the age:
Please select the period:
When did you first notice delayed motor development?
Please select the approximate date:
Please enter the age:
Please select the period:
When did you first notice muscle pain?
Please select the approximate date:
Please enter the age:
Please select the period:
When did you first notice swallowing difficulties?
Please select the approximate date:
Please enter the age:
Please select the period:
When did you first notice breathing difficulties?
Please select the approximate date:
Please enter the age:
Please select the period:
When did you first notice cramps?
Please select the approximate date:
Please enter the age:
Please select the period:
When did you first notice stiffness?
Please select the approximate date:
Please enter the age:
Please select the period:
When muscle weakness was noticed for the first time, where was this weakness located?
When do you have muscle pain?
Have you ever used a gastric or nasal tube for feeding due to your neuromuscular condition?
How did you use a feeding tube at that time?
How did your feeding tube use change since then?
When did you stop using a feeding tube?
Please enter the age: