The Impact of non-dystrophic Myotonia on Patient And Caregivers’ qualiTy of life

The first international online survey in Europe to gain insights into both the experiences of patients with non-dystrophic myotonia (NDM) and those caring for or living with patients with NDM is now closed. Thank you to all those who participated. 

About NDM

Non-dystrophic myotonias are a group of rare diseases with symptoms beginning in childhood. The diseases are caused by mutations in key skeletal muscle ion channels. The major clinical symptom is muscle stiffness as a consequence of the myotonia. Additional common symptoms include pain, weakness and fatigue.
NDM can also be referred to as:

Thomsen myotonia congenita

(dominant)- CLCN1 chloride gene affected.

Becker myotonia congenita

(recessive), CLCN1 chloride gene affected.

Paramyotonia congenita

(SCN4A gene affected) -also can be called Eulenburg myotonia or paradoxical myotonia. 

Periodic paralysis

SCN4A gene affected

Potassium aggravating myotonia

SCN4A gene affected.

About the surveys

To fully understand the journey and experiences of people living directly or indirectly with NDM, a genuine and person-centered approach to healthcare must be used to better understand the disease.

We therefore designed two surveys:

1

One for people living with a non-dystrophic myotonia.

2

A second survey for caregivers, family members, partners, and loved ones living with someone who has a non-dystrophic myotonia.

Your participation in these surveys and/or sharing the links with your relevant contacts will for the first time provide insights into the impact of NDM on those living with the disease and their families.

The surveys aim to uncover the most relevant symptoms related to NDM and the impact of the disease on the quality of life of individuals living with the disease and those close to them.

The survey should take about 20-30 minutes to complete and is fully anonymous. If you chose to share your email address to receive the results at the end of the survey, you will receive a report after an evaluation of the responses is complete. Afterwards your email address will be deleted, unless you “opt-in” and agree to be contacted again by admedicum for future exchanges.

Who can complete the surveys?

A person living with an NDM that is over the age of 18 years

A caregiver, family member, partner, or loved one of a person living with non-dystrophic myotonia

Why participate in the IMPACT Survey?

The impact of NDM on patients’ lives and on those close to them is still not fully understood by many healthcare decision makers and providers.

You can receive an Amazon voucher as a thank you gift for the time you have invested in completing the survey.

Your experience matters and can help to improve management of NDM within your country and other European countries.

Through your participation you can ensure that the patient voice is heard and understood.
The results will be shared with all patients and stakeholders who have a justified interest, hence society will benefit from the survey outcomes.

You can receive the results in the language you used to complete the survey.

Why and how were these surveys created?

admedicum Business for Patients is collaborating with Lupin Neurosciences, a specialty pharma division of Lupin Ltd. to gain insights into the experiences of patients living with non-dystrophic myotonia (NDM).

The collaboration between admedicum and Lupin Neurosciences began in 2018 with the MyoPath survey, you can view the results of that project here.

As is our normal practice, admedicum involved patients and caregivers in the development and design of the survey to ensure a holistic patient centered approach. The survey will neither directly nor indirectly recommend or promote any therapy or product. The results of the survey will be made available to patient groups, physicians and other interested parties.

All survey responses are kept anonymous, and under no circumstances will your completed survey be linked back to you, even if you choose to leave your email address at the end of the survey to receive the aggregated survey results report.

Frequently asked questions

01

I have myotonia congenita, or Thomsen myotonia or Becker myotonia or Paramyotonia congenita or Eulenberg myotonia or paradoxical myotonia or periodic paralysis (SCN4A gene affected), or potassium aggravating myotonia……. Should I complete the survey?
Yes! Those are all names for types of non-dystrophic myotonia. These are exactly the patients’ families we would like to give a voice through this survey.

02

My child has been diagnosed with a non-dystrophic NDM, should I complete the survey?
Yes, please complete the caregivers survey. You can also share the link to this webpage with any other families or people living with NDM you may be in contact with.

03

Is the survey available in any other languages?
The survey is available in English, French, Spanish, Italian, German and Dutch. Please only complete the survey one time per person in the language you are most comfortable in.

04

How will privacy be protected?
The only personal information collected at the end of the survey is your email address should you choose to provide it. Under no circumstances will your contact details or personal information be shared with Lupin or any other third party. Please read the privacy policy for all the details.

05

I have dystrophic myotonia, should I complete the survey?
Thank you for your interest, but this particular survey is targeting people living with non-dystrophic myotonia and their caregivers..

06

What will happen with the survey results?
If you complete the survey and opt-in, we will send you a summary of the survey results by email. Afterwards we will delete your email address. We will also share the aggregated results of the survey with healthcare professionals who are involved in the care of people living with non-dystrophic myotonia.

Publication of comprehensive survey results is dependent on receiving a minimum number of responses to each survey.

An initiative of Lupin Neurosciences and admedicum Business for Patients

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