Myotonia Congenita :Treatment, Procedure, Cost And Side Effects

Myotonia Congenita is a rare genetic condition which begins during childhood and causes stiffness in muscles and cramping. Due to the disease the patient skeletal muscles are unable to quickly relax after voluntary movements. The mutation occurs in CLCN1 gene. Myotonia Congentia causes a pain in muscles to those who are diagnosed with it. It makes day to day functions difficult as it hardens your movement everywhere. It is manageable with therapy and medication once it is diagnosed. It does not pose any threat to life and doesn’t affect life expectancy in any way. But it does make it tough to do daily activities as compared to others. Although there is no cure for it, the symptoms are manageable and reducible by engaging in various physical activities, along with medications which too help in reducing the symptom. Research is continually made to find a more permanent solution for the disease and the idea of biomechanical technology to solve the issue sounds inspiring. The reason behind Myotonia Congenita is an abnormality on the chloride channels of the skeletal muscle cells which is due to the mutation in CLCN1 gene. This type of disorder is also called channelopathy. Muscles are relaxed with the help of chloride channels. Males are found to be affected severely than as compared to females, the reason is unknown. Though it is suggested that testosterone and other male hormones may have an effect on chloride channels. Thus, the treatment may require blood and Urine sample examination, X-rays, genetic tests etc. to diagnose the disease. After the diagnosis for mild cases certain physical exercises, yoga and nutrient supplements are suggested. For little sever cases medication are provided.

The treatment for Myotonia Congenita is as follows:

1. For Mild cases: The treatment for Myotonia Congenita for mild cases can be managed by warming up muscles through exercise, physical therapy, sports etc. Physical therapy, exercise sports are a great form of treatment. The diseases, in most of the cases, is focused on a certain part of the body. Therapy and exercises focusing on that part could help reduce symptoms. acupuncture, chiropractic treatments also help in reducing symptoms and help the diseased get used to the stiffness even reduce it to some extent such that it doesn’t hinder the persons day to day life.
2. For severe cases supportive medications is used: Some medicines and medical treatments that help reducing symptoms do exist but are not formally considered as the treatment for Myotonia Congenita. Various prescription medications help to block the sodium channels to reduce symptoms of Myotonia Congenita which are supportive in nature these includes:
   • Tegretol / Dilantin - have an effect on ion channels and are actually anti-seizure medications
   • Diamox - this has an impact on the body’s electrolytes and is a used for fluid retention
   • Alimemazine, trimeprazine - is an antihistamine used for treating allergic reactions
   • Dantrolene - is a muscle relaxant which helps to relax stiff muscles
   • Mexitil - is usually used to treat arrhythmias which is a sodium channel blocking medication
   • Qualaquin - it was most widely used for the treatment of Myotonia Congenita before, but not anymore because of its’ side effects
   • Yoga also helps with the muscles, yoga, in fact, is considered to be the best counter against Myotonia Congentina.

The physical therapy, exercise, yoga, etc. can start as soon as the person is diagnosed. These treatments do not have any particular age limit, so any person diagnosed with Myotonia Congentina can start with the treatments. It is recommended though that child diagnosed with the disease should take on sports, yoga over going to physical therapy for reducing the pain. Medications are only recommended when the pain is too much to bear, as they are not a cure and only reduce symptoms. There is no medication made for the diseases in particular. If someone decides to take medicines, care should be taken regarding allergies.

Those who have the symptoms like muscle stiffness, muscular weakness, muscle ache, EMG abnormality, etc. which are associated with the disease and are found to have mutation in the CLCN1 gene are eligible for the treatment.

People whose pain is not too severe or not widespread should not take on medications rather they should adapt to exercise and playing sports, along with yoga and other physical therapies. People with allergies to a certain type of medicine, or another disease which is affected by the medicine should not consume the same, rather receive advise for other ways to reduce the symptom. The other treatments like yoga, sports, and exercise are good for health and are recommended even when not diagnosed with a muscle disease. Thus anyone who wants to leave a healthy life can follow these treatments. Yoga and sports are good for a healthy body posture and even help to keep a mental balance along with fit physic.

As most of the problems can be treated with exercise, physical therapies, etc. these do not have any side effects, in fact, the same is recommended to anyone without the disease too. They are a way to a healthy lifestyle. Although exercise and therapies for a person diagnosed with Myotonia Congentina are more focused on the part from where the disease origin.

One of the most common medicines used for reducing the symptoms of Myotonia Congentina was Qualaquin, but it had several side effects like,

1. A headache along with chest pain accompanied with severe dizziness
2. Fast, pounding, increased heartbeats
3. Unusual bleeding or bruising like nosebleeds, bleeding gums, purple or red spots under your skin
4. Signs of infection like fever, chills, mouth sores
5. Severe lower back pain
6. Blood along with your urine
7. Tegretol has certain side effects too, according to how your body adjusts to the same, including but not limited to nausea, vomiting, dizziness, drowsiness, dry mouth, swollen tongue, loss of balance, unsteadiness etc.
8. Diamos too has side effects like drowsiness, ataxia, dizziness, thirst, headache, confusion, depression, among other problems.

In case any patient reports any other complexity after undergoing the treatment the patient is advised to consult the doctor immediately.

As the disease is a genetic one, there is only supportive cure. And the treatment methods include physical therapy, exercise, sports, yoga along with supportive medications . If the pain gets reduced or is bearable than it is recommended that the patient should stop the medicines after completing the current course. It is also recommended that the patient continue physical workout on the affected areas so that the pain doesn’t come back. The patients are required to be cautious and thus are required not to put too much physical strain unless absolutely necessary. The medications are to be consumed on the basis of a prescription from a doctor. Care should be taken of any allergies before taking the medications. And the complete prescribed course should be followed for the obtaining the desired results.

Myotonia Congentina being a genetic condition and rare has only supportive cure. In most cases, the symptoms are reducible by exercise, sports, yoga, etc. but it cannot be completely eradicated. Thus, for now, the disease is incurable and exercising and maintaining a healthy lifestyle is the best way to deal with the disease. The person diagnosed with Myotonia Congentina should engage in such health activities to reduce the pain and learn to live with it. The exercises should be focused on the point of origin of the disease, and help the diagnosed to learn to perform day to day activities by developing a certain routine which does not hold them back as compared to others.

The medication costs are as follows:

1. Tegretol can cost about Rs. 25 per pill/unit in India
2. A 250 mg tab of Diamox will take about Rs. 62 out of your pocket.
3. 15 mg of Alimemazine can cost about Rs. 90 in the subcontinent.
4. Dantrolene Sodium injection of a strength of 20 mg costs about Rs 8 per piece in India.
5. A Mexitil tab of 150 gm, comprising of 10 capsules cost around Rs. 200 in the country.

   The treatment cost which may include diagnosis, medication and exercises thus may range from Rs: 5000/- to 50,000/- INR.

As mentioned, there is only supportive treatment for the disease as a whole, the symptoms can only be reduced but not completely separated from the diagnosed body. So to maintain a healthy life style the diseased must engage in the recommended physical workout on a daily basis, and take special care of the affected area in the body. The person should make sure he/she doesn’t overstrain the affected muscle which could worsen the condition, the physical treatment is a slow but effective way to handle the case of Myotonia Congentia, and thus patience, endurance, and hard work with passion is required from the person suffering through this genetic disease, to overcome the barriers the same create, and live a normal, long, and happy life.

Currently, there are no tried, tested, and approved alternative for treating the disease other than the physical therapies, sports, exercise, yoga, etc. and the medications mentioned before, neither of which are specifically designed to cure Myotonia Congentina. In fact, there are no specific medicines for the disease right now, and all the medications used just help reduce the symptom in a small way, and are actually made to address different diseases. Although research to develop methods to deal with the problems are continuously under progress. Some even suggest using biomechanical parts or devices which could help normal functioning of the affected body part, although progress is continuously made, it might be a while before the technology is perfected and a solution for the disease is determined. Even if the technology is perfected it will be at a high cost and thus the challenge will be to make it at a rate that any person in need of the tool could afford it.