Example questionnaire

Here you can find a preview of the questions you will be asked if you sign up to the Global FKRP Registry.

When filling in the real questionnaire online, you can click on the answers and enter your details in text boxes.

The first part of the questionnaire should be completed by you, or the parent/guardian if the patient is under 18 years of age. The second part of the questionnaire will be completed by your doctor.

Both parts will be viewable by both patients and doctors once securely logged on.

Part 1 - to be completed by the patient or parent /guardian of the patient

Please answer all the questions, as this information is necessary for including you in the international registry. But if there is a question that you can not answer right away, just leave the option ‘not specified’ checked and continue with the other questions. You can enter the missing data at a later date.

1. What is your diagnosis according to your doctor?
- LGMD2I (Limb Girdle Muscular Dystrophy 2I)
- MDC1C (Congenital Muscular Dystrophy 1C)
- Other FKRP-related condition (please specify below)
- Other diagnosis (please specifiy below)
- Not specified
Other diagnosis : _________________________
2. What is your current best motor function?
Motor function describes a person’s ability to move his or her body. Sitting independently means that you can stay in the sitting position for several minutes, without being supported by either another position or stabilizing device (chair back, corset or brace).
- I am able to run
- I am currently able to climb stairs without assistance
- I am currently able to climb stairs with the use of hand rails
- I am currently able to walk without support
- I am currently able to walk with support
- I am currently not able to walk, but I am able to sit independently (without support)
- I am currently neither able to walk nor to sit independently
- Not specified
3. What was the best motor function you achieved?
This question is not about the current situation, but about the time when your ability to move was the best. What was your best motor function ever? Please also state the age at which you were able to perform this motor function.
- I was able to run
- I was able to climb stairs without assistance
- I was able to climb stairs with the use of hand rails
- I was able to walk without support
- I was able to walk with support
- I was not able to walk, but I was able to sit independently (without support)
- I was neither able to walk nor to sit independently
- Not specified
This was possible from the age of ___ years and ___ months up to the age of ___ years and ___ months (leave the last two fields blank if this is your current motor ability).
4. Do you currently use a wheelchair?
- I always use a wheelchair
- I sometimes use a wheelchair, but I am able to walk
- I never use a wheelchair
- Not specified
5. Do you have muscle aches or pains (myalgia)?
- I don’t have muscle aches or pains
- I have muscle aches or pains at rest
- I have muscle aches or pains during exercise
- I have muscle aches or pains after exercise
- Not specified
6. Do you regularly use a non-invasive ventilation device?
Some patients with LGMD2I or MDC1C have trouble with their breathing. To support their breathing, they get a ventilation device that they either use full-time, i.e. 24 hours a day, or only for several hours a day or at night. “Non-invasive” means that they use this device without having had an operation. Usually this means they wear a mask that can be removed at any time.
- I do not regularly use a non-invasive ventilation device
- I regularly use a non-invasive ventilation device for several hours a day or at night
- I regularly use a non-invasive ventilation device full-time, i.e. 24 hours a day
- Not specified
This has been the case since the age of ___ years and ___ months.
7. Do you regularly use invasive ventilation?
“Invasive ventilation” means that the patient had to have an operation (an incision in the wind-pipe, also known as tracheotomy) to use the ventilation device. Again, this ventilatory support system can be used either all day or a few hours per day.
- I do not regularly use invasive ventilation
- I regularly use invasive ventilation for several hours day or at night
- I regularly use invasive ventilation full-time, i.e. 24 hours a day
- Not specified
This has been the case since the age of ___ years and ___ months.
8. Do you know of any family members who have similar symptoms, or a diagnosis of LGMD2I, MDC1C or a different condition caused by a mutation in the FKRP gene?
FKRP is a a gene that when mutated (faulty) can cause 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.
- Yes
- No
- Not specified
9. Would you like to be contacted if you might be suitable for a clinical trial/research study?
If you do not want us to inform you if there is a clinical trial/research study that you might be eligible for, please turn off the following option. But note that by leaving this option on, you are not placing yourself at any risk or under any obligation to take part in a trial or a study. This option only means you will be informed about trials/studies. In order to take part in any trial/study, you would be given precise details about that trial/study and you would have to sign a separate consent form. Also note that we will never give away your contact data to anybody, whether you are interested in clinical trials/research studies or not. You can switch this option off or on at any time.
- Yes
- No

Part 2 - to be completed by the doctor involved (normally a neurologist/neuromuscular specialist) and is available for viewing by the patient

1. When were the first presenting symptoms?
At the age of: ___ years ___ months
What were the presenting symptoms?
- Weakness in upper limb
- Weakness in lower limb
- Proximal weakness
- Distal weakness
- Myalgia
- Respiratory problems
- Myoglobinuria
- HyperCKaemia
- Cramps
- Stiffness
- Other: _______________
2. What is the result of the last pulmonary function test?
Forced vital capacity (FVC)
__________ litres
__________ %
Type
- In sitting position
- In lying position
- Not specified
- Date of the test: year-month-day
3. What was the result of the last cardiac check (ultrasound examination)?
- Normal
- Impaired function, no treatment
- Impaired function and started treatment
- Deterioration and medication changed
- Not specified
- Results:
  Fractional shortening (FS) ______ %
  Ejection fraction (EF) ______ %
  Further results: _________________________
4. What medication are you currently on?
- ACE inhibitors
- Beta blockers
- Steroids
- Other medication: _________________________
5. Has a brain MRI been performed?
- Yes, it showed normal results
- Yes, it showed structural brain abnormalities (please specify below)
- No brain MRI has been performed
- Not specified
- Structural brain abnormalities: _________________________
6. Is your cognitive function normal?
- Yes
- No
- Not specified
7. Has a muscle MRI been performed?
- Yes, it showed normal results
- Yes, it showed abnormal results (please specify below)
- No, a muscle MRI has not been performed
- Not specified
- The MRI showed abnormal results in the following muscle groups:
  - Biceps femoris and/or internal adductors
  - Rest of the hamstring muscles involved
  - Vastus medialis and/or lateralis muscles
  - Other: _________________________
8. Do you have contractures?
- Yes (please specify below)
- No
- Not specified
  - Elbow
  - Wrist
  - Fingers
  - Knee
  - Ankle
  - Hip
  - Other joints : _________________________
9. Are there any other medical problems?
- Yes (please specify below)
- No
- Not specified
  - Vision
  - Hearing
  - CNS
  - Vascular
  - Endocrine
  - Renal
  - Others: _________________________
10. What is your current 6 minute walk distance?
___________ metres
This is a validated test that is easy to perform and can be accurately and reproducibly assessed. Standard procedures for conduct of the test and for analysis of the data in adults and children have been developed (ATS 2002, Geiger 2007). Space and equipment are minimal (stop watch, hallway and traffic cones) and physiotherapists will be easily able to perform this.
11. What are your current MRC scores?
- Hip flexor ___ /5
- Hip extensor ___ /5
- Hip adductors ___ /5
- Hip abductors ___ /5
- Shoulder flexion ___ /5
- Shoulder abduction ___ /5
- Ankle dorsiflexion ___ /5
- Ankle plantar flexion ___ /5
12. What is the result of your genetic testing?

Mutation in HGVS nomenclature ___________

Mutation type

Homozygous
Heterozygous
Not specified

Method used for testing

Sequence analysis
Quantitative methods (MLPA [Multiplex ligation-dependend probe amplification], Real time PCR)
RFLP (Restriction fragment length polymorphisms)
Other methods
Not specified

Exons tested _____

Date of report _____

Comments _____