Problems with Diagnosis: Myotonia Congenita

Obstacles to diagnosis

The major obstacles to diagnosis of myotonia congenita can be:

– The subjective experience of feeling “stiff” apparently a feeling experienced by everybody can obscure further investigation into the underlying problem and can cause a lack of attention to symptoms both on the part of the sufferer as well as those around them.

– Embarrassment on the part of the sufferer who does not understand that their experience of stiffness is markedly different from that of other normally functioning people. They may feel ashamed or embarrassed of their inability to perform certain tasks and try to mask or hide their difficulties as a result.

– Hiding symptoms. As sufferers can become quite adept at hiding their symptoms from others due to the embarrassment that they feel, others may not be aware of the difficulties that they have and as a result a possible avenue for help and symptom exploration is closed.

– Lack of consistency in symptoms. Symptoms of myotonia can be irregular and as a result hard to define or exhibit to medical professionals or friends and family in the event that someone presents themselves for help. This can lead to the sufferer believing that they don’t really have a problem and that they shouldn’t make a big deal out of it. After all everyone sufferers from stiffness. This can be a very confusing part of the disease, at times when myotonia presents it can have a debilitating effect like a disability. At other times, symptoms do not arise at all. This irregularity of symptoms can make understanding the condition for the sufferer very difficult both physically and emotionally.

– Lack of knowledge and understanding from others, including patients’ GPs. This is a critical point and one which can negatively reinforce the behavioural and psychological manifestations outlined above. As myotonia is a rare disease, it is understandable that other people, doctors included are not familiar with the symptoms. As a result, a myotonia sufferer who presents themselves to their GP for help, who we must remember may also have a high degree of uncertainty around their own symptoms in the first place, may find an unhelpful and unsupportive attitude in response which further compounds the sufferers situation. In many cases this may represent the final closure of any opportunity to receive a diagnosis. Recognition is a crucial element for the sufferer, one which provides reassurance and hope for help.

Here we see how we can fall into a cyclical thinking pattern that prevents sufferers from fully acknowledging their own difficulties due to embarrassment, lack of understanding, both on their own part and from others, irregularity of symptoms and hiding and avoidance strategies. The result of which, is that either no medical attention is actively sought or insufficient awareness on the part of their GP compounds their confusion around their symptoms. This underlines the need for greater awareness of those in positions to identify the signs of myotonia to be able to make a considered intervention and help potential sufferers gain the diagnosis and subsequently treatment that they need, which may have a dramatic impact on their quality of life.

Summary of diagnosis problems:

1. feel a restrictive stiff sensation
2. inability to perform normal tasks
3. lack of consistency in symptoms due to various contributing factors which make symptoms better or worse
4. difficulty demonstrating and explaining the problem to others
5. lack of awareness of a significant medical problem
6. embarrassment and hiding of symptoms
7. lack of medical awareness due to the rarity of the condition
8. the limitations of language to describe the problem, poor likelihood of receiving supportive feedback
9. lack of diagnosis and continued suffering, both physical and mental.