Preparing for a visit to the doctor

Visiting a doctor can be a stressful event if you are worried what symptoms might mean, or if you feel uncertain about how to explain what you are experiencing. These visits are valuable opportunities for you to engage with your doctor, ask questions, find out more about your health and request a change to the plan if you feel that things aren’t improving. Developing a partnership with your doctor can help you access the healthcare resources you need. Time invested in managing your health will be time well spent.

We have compiled some tips to help you maximise the time you have with your doctor at each stage of your journey from when you first notice symptoms, through getting a confirmed diagnosis and help managing NDM, and beyond. It is important to remember that NDM is a rare disease, and your doctor may never have met someone before with your condition or may have limited experience with NDM. It is normal for you to be referred to a specialised centre with doctors who have additional training in rare diseases that affect the nervous system and muscles, and which has more experience in diagnosing and giving advice on conditions like NDM.

When you first recognize symptoms

When you first recognize that you are experiencing some unusual symptoms, your first stop is likely to be with your primary care physician or GP. NDM is a rare disease and the major symptoms of NDM may overlap with many other more common illnesses, consequently it is not unusual for doctors to diagnose one of those more common conditions before the correct diagnosis of NDM is made. To help your doctor differentiate between the many possible illnesses, provide as much information as you can about your daily experiences.

Prepare for your visit

  • As muscle stiffness (myotonia symptoms) in people with NDM may be variable and unpredictable,1,2 your symptoms may be better or worse than normal at the time of your visit to your doctor. Consider keeping a diary of your symptoms beforehand, noting the activity you were involved in and situations when symptoms are better or worse.
  • Ask family members if they have ever experienced similar symptoms. This information may be useful for your doctor to take into consideration when assessing your symptoms.
  • Create a list of questions that you want to ask.
  • If you find similarities between the symptoms you experience, their impact on your life and the NDM related symptoms described, print off information about the condition to share with your primary care provider. This information could be helpful to explain your symptoms. NDM is a rare disease and your doctor may never have come across anyone with NDM before and may not know much about the condition.
  • Ask if it is possible to have a friend, relative or somebody close to you accompany you to your appointment.

During your visit

  • The time you have with your doctor may be short, so it is important to communicate clearly and concisely what symptoms you have been experiencing.
  • Explain which muscles are affected and the times when your symptoms are better or worse.
  • “Muscle stiffness” may apply to many different injuries or illnesses, so highlight that you have a problem with your muscles locking up or failing to relax after you have made a movement.
  • Tell your doctor when you started to notice the symptoms, and how activities you were able to do without problem in the past became more difficult for you.
  • Tell your doctor if you have any other family members who have been diagnosed with NDM or who experience similar symptoms.
  • Explain to your doctor how the challenges you face are affecting your mental health or quality of life if this is the case for you.
  • Don’t be afraid to ask questions and take notes about the conversation you have with your doctor. If you struggle with note taking, ask if you can record the discussion or have a friend, relative or the person who came with you take notes for you.
  • If you and your primary care doctor agree that NDM is a possibility, don’t be afraid to ask for a referral to a neurologist who is specialized in neuromuscular disorders for further investigation.

Visiting a specialist for tests or diagnosis

To further investigate the symptoms you have been experiencing, you may need to visit a specialist with additional knowledge and access to different diagnostic tests. To confirm a diagnosis of NDM, you will need to see a specialist in neurology.

Prepare for your visit to a specialist in neurology, who may be able to confirm if you have NDM or another neurological condition:

Prepare for your visit

  • You may need to travel to see a specialist. Plan your journey and aim to arrive ahead of schedule. Appointments may be hard to get, and your neurologist will have lots of patients to see, so you don’t want to miss your appointment!
  • As myotonia in patients with NDM may be variable and unpredictable,1,2 your symptoms may be better or worse than normal at the time of your visit to the neurologist. Consider keeping a diary of your symptoms beforehand, noting the activity you were involved in and situations when symptoms are better or worse.
  • Ask family members if they have ever experienced similar symptoms. This information may direct your doctor to consider genetic diseases.
  • Create a list of questions that you want to ask.
  • Think about your goals for your appointment, for example, to get your symptoms investigated.
  • Ask if it is possible to have a friend, relative or somebody close to you accompany you to your appointment.

During your visit

  • You may not have long in your appointment, so it is important to communicate clearly and concisely what symptoms you have been experiencing.
  • Explain which muscles are affected and the times when your symptoms are better or worse.
  • “Muscle stiffness” may apply to many different injuries and illnesses, so highlight that you have a problem with your muscles locking up or failing to relax after you have made a movement.
  • Tell your doctor when you started to notice the symptoms, and how activities you were able to do without problem in the past became more difficult for you.
  • Tell your doctor if you have any other family members who have been diagnosed with NDM or who experience similar symptoms.
  • Explain to your doctor how the challenges you face are affecting your mental health or quality of life if this is the case for you.
  • Don’t be afraid to ask questions and take notes about the conversation you have with your specialist. If you struggle with note taking, ask if you can record the discussion or have a friend, relative or the person who came with you take notes for you.
  • If you are seeing a specialist for diagnostic tests, don’t be afraid to ask questions if you are worried or confused about any aspect of the test.
  • If you receive a diagnosis, it can be overwhelming or a huge relief. Both of which may mean you don’t think of questions until after your appointment. Ask if there is a way you can contact your specialist or a specialist nurse after your visit to ask additional questions.
  • Make sure before you leave that you know what the next steps are for you, whether that is to return for a diagnosis, to monitor your symptoms or initiate a management plan.

Follow-up visit with a specialist

When you have received a confirmed diagnosis of NDM, you may need to return to your specialist to check that your symptoms are being managed in the best way possible.

Prepare for your visit

  • You may need to travel to see a specialist. Plan your journey and aim to arrive ahead of schedule. Appointments may be hard to get, and your neurologist will have lots of patients to see, so you don’t want to miss your appointments!
  • As myotonia in patients with NDM may be variable and unpredictable,1,2 your symptoms may be better or worse than normal when you visit your neurologist. Consider continuing your symptom diary, noting which of your daily activities you are still struggling with and any management strategies you have been using.
  • Create a list of questions that you want to ask.
  • Think about your goals for your appointment, for example, to get more advice on managing your symptoms.
  • Ask if it is possible to have a friend, relative or somebody close to you accompany you to your appointment.

During your visit

  • You may not have long in your appointment, so it is important to communicate clearly and concisely what symptoms you have been experiencing, and if you are finding that you are still struggling with daily activities.
  • Explain to your doctor how the challenges you face are affecting your mental health or quality of life if this is the case for you.
  • Don’t be afraid to ask questions and take notes about the conversation you have with your specialist. If you struggle with note taking, ask if you can record the discussion or have a friend, relative or the person who came with you take notes for you.
  • If you feel that the management plan you currently have in place is not clear or not helping, ask if there are other strategies you could try.
  • Make sure before you leave that you know what the next steps are for you, whether that is to seek help from another healthcare provider (for example, a physiotherapy referral), return for a diagnosis, or initiate changes to your management plan.
References
  • Heatwole CR, et al. Muscle Nerve 2013;47:632-48
  • Hahn C, Salajegheh MK. Iran J Neurol 2016;15:46–53

What’s your NDM story?

speech

Share your story of your journey with NDM here

You are free to share your story in writing, video, audio, painting, or any other form that helps you tell your story about your journey with NDM.

Foods to avoid on a low-potassium diet*

  • Fruit1,2
  • Vegetables1,2
  • Beans/legumes1,3
  • Other1-3
  • Avocado
  • Artichoke
  • Baked beans
  • Bran cereal
  • Apricots
  • Beetroot
  • Kidney beans
  • Dairy (eg yoghurt, milk)
  • Bananas
  • Brussel sprouts
  • Lentils
  • Nuts
  • Dried fruits eg dates, raisins and prunes
  • Broccoli (cooked)
  • Brown rice
  • Grapefruit
  • Okra
  • Salt substitutes
  • Kiwi
  • Parsnip
  • Wholewheat bread and pasta
  • Mango
  • Potatoes (processed or with skin on)
  • Melons
  • Cooked spinach
  • Nectarines
  • Tomato (concentrated, eg. Tomato puree)
  • Oranges and orange juice
  • Papaya
  • Pomegranate and pomegranate juice
  • Fruit1,2

    Avocado

    Apricots

    Bananas

    Dried fruits eg dates, raisins and prunes

    Grapefruit

    Kiwi

    Mango

    Melons

    Nectarines

    Oranges and orange juice

    Papaya

    Pomegranate and pomegranate juice

  • Vegetables1,2

    Artichoke

    Beetroot

    Brussel sprouts

    Broccoli (cooked)

    Okra

    Parsnip

    Potatoes (processed or with skin on)

    Cooked spinach

    Tomato (concentrated, eg. Tomato puree)

  • Beans/legumes1,3

    Baked beans

    Kidney beans

    Lentils

  • Other1-3

    Bran cereal

    Dairy (eg yoghurt, milk)

    Nuts

    Brown rice

    Salt substitutes

    Wholewheat bread and pasta

*Meat and fish contain a moderate amount of potassium but they are an important source of protein so shouldn’t be avoided; Dairy products contain potassium but are an important source of calcium so should be consumed in moderation
References
  • WebMD. Low-potassium diet: what to know? Available at: https://www.webmd.com/food-recipes/low-potassium-diet-foods ; Accessed March 2021
  • St Georges Kidney Patients Association. Eating on a low potassium diet. Available at: https://www.sgkpa.org.uk/main/eating-well-on-a-low-potassium-diet-2 ; Accessed March 2021
  • NHS. Information for people on a low potassium diet. Available at: https://www.nth.nhs.uk/content/uploads/2019/02/PIL1061-Information-for-people-following-a-low-potassium-diet-Final-11.02.19-LP.pdf ; Accessed March 2021
  • NDM type1
  • Symptoms2,3
  • Which type of ion channel? 2,3
  • How is it inherited?2,3
  • Thomsen myotonia congenita

    (also called Thomsen myotonia or autosomal dominant myotonia congenita)
  • Lower limbs tend to be more affected, although can also affect the arms, hands and face. Stiffness may be worse when you first try to move after a period of inactivity, and may ease as you ‘warm up’.
  • Chloride (Cl-)
  • Autosomal dominant
  • Becker myotonia congenita

    (also called Becker myotonia, Becker disease, generalized myotonia, recessive generalized myotonia or autosomal recessive myotonia congenita
  • Lower limbs tend to be more affected, although can also affect the arms, hands and face. Stiffness may be worse when you first try to move after a period of inactivity, or if you are startled, and may ease as you ‘warm up’. Sometimes people with Becker myotonia congenita experience temporary weakness after an episode of myotonia.
  • Chloride (Cl-)
  • Autosomal recessive
  • Paramyotonia congenita

    (Also called Eulenburg disease, paralysis periodica paramyotonia, paramyotonia congenita of von Eulenburg, PMC or von Eulenburg’s disease)
  • Myotonia mainly affects hands and face and gets worse with exercise. Cold is also a key trigger of myotonia, and muscle weakness after an episode of myotonia may last hours or sometimes days.
  • Sodium (Na+)
  • Autosomal dominant
  • Sodium channel myotonia, SCM:

    myotonia permanens and myotonia fluctuans, acetazolamide-responsive myotonia (ARM) previously known as Potassium aggravated myotonias (PAM)
  • Potassium-aggravated myotonia is a rare form of NDM that affects all areas of the body. Myotonia attacks are triggered by eating potassium-rich foods. Symptoms may fluctuate widely from day to day (myotonia fluctuans) or are constant and severe (myotonia permanens).
  • Sodium (Na+)
  • Autosomal dominant
  • Other closely related sodium disorders with myotonia

    (including hyperkalemic paralysis or hyperPP)
  • Myotonia is usually mild, and often involves the eyelids, hands, and tongue. Attacks of weakness can occur at any time and are commonly triggered by rest following exercise, fasting, eating potassium-rich foods or stress.
  • Sodium (Na+)
  • Autosomal dominant
References
  • Stunnenberg B. Muscle Nerve. 2020 Oct; 62(4): 430–444
  • Hahn C, Salajegheh MK. Iran J Neurol 2016;15:46–53
  • Matthews E, et al. Brain 2010:133; 9–22
  • NDM type1

    Thomsen myotonia congenita

    (also called Thomsen myotonia or autosomal dominant myotonia congenita)

    Becker myotonia congenita

    (also called Becker myotonia, Becker disease, generalized myotonia, recessive generalized myotonia or autosomal recessive myotonia congenita

    Paramyotonia congenita

    (Also called Eulenburg disease, paralysis periodica paramyotonia, paramyotonia congenita of von Eulenburg, PMC or von Eulenburg’s disease)

    Sodium channel myotonia, SCM:

    myotonia permanens and myotonia fluctuans, acetazolamide-responsive myotonia (ARM) previously known as Potassium aggravated myotonias (PAM)

    Other closely related sodium disorders with myotonia

    (including hyperkalemic paralysis or hyperPP)

  • Symptoms2,3

    Lower limbs tend to be more affected, although can also affect the arms, hands and face. Stiffness may be worse when you first try to move after a period of inactivity, and may ease as you ‘warm up’.

    Lower limbs tend to be more affected, although can also affect the arms, hands and face. Stiffness may be worse when you first try to move after a period of inactivity, or if you are startled, and may ease as you ‘warm up’. Sometimes people with Becker myotonia congenita experience temporary weakness after an episode of myotonia.

    Myotonia mainly affects hands and face and gets worse with exercise. Cold is also a key trigger of myotonia, and muscle weakness after an episode of myotonia may last hours or sometimes days.

    Potassium-aggravated myotonia is a rare form of NDM that affects all areas of the body. Myotonia attacks are triggered by eating potassium-rich foods. Symptoms may fluctuate widely from day to day (myotonia fluctuans) or are constant and severe (myotonia permanens).

    Myotonia is usually mild, and often involves the eyelids, hands, and tongue. Attacks of weakness can occur at any time and are commonly triggered by rest following exercise, fasting, eating potassium-rich foods or stress.

  • Which type of ion channel? 2,3

    Chloride (Cl-)

    Chloride (Cl-)

    Sodium (Na+)

    Sodium (Na+)

    Sodium (Na+)

  • How is it inherited?2,3

    Autosomal dominant

    Autosomal recessive

    Autosomal dominant

    Autosomal dominant

    Autosomal dominant

References
  • Stunnenberg B. Muscle Nerve. 2020 Oct; 62(4): 430–444
  • Hahn C, Salajegheh MK. Iran J Neurol 2016;15:46–53
  • Matthews E, et al. Brain 2010:133; 9–22