Myotonia Congenita

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This goat is cute and fluffy. It also just fainted. It wasn’t scared of anything. It just suffers from myotonia congenita. No, this weeks post isn’t about a disease that only affects goats; myotonia congenita can infect humans too.

Myotonia congenita is a genetic, neuromuscular channelopathy that affects the skeletal muscles in the body. This means that the disease affects the function of ion channels subunits or the proteins that regulate them. They affect primarily the chloride ion channels. These ions are responsible for letting the body know when to contract and release muscles in your body. The disease can affect almost any skeletal muscle, but it generally affect only the leg muscles. The interesting thing about this disease is that is identified early in childhood. Children start off by experiencing mild bouts of pain and muscle stiffness. The pain can remain at a low level. However, myotonia congenita can be as severe and interfere with any type of movement. Patients with this disease report the greatest amount of pain after periods of movement. Can you imagine giving up running for the rest of your life? I’m not much of a runner myself, but to not even have the option of running. That’s pretty scary!500070-fx19

Myotonia congenita is divided into two categories Thomsen and Becker. Those with Becker disease are affected later in childhood than those with Thomsen. Becker also causes more severe muscle stiffness and affect males more severely. Not only do they experience muscle stiffness, but also periods of muscle weakness. Muscle weakness is only seen in patients affected by Thomsen disease. Since the disease is caused my a mutation in the CKCN1 gene, it depends on your parents which type of the disease you contract. The Thomsen disease is inherited by autosomal dominant pattern. That means the mutation has to occur in only one copy of the gene in the cell. Those with Thomsen disease only need one parent with the condition. The Becker disease is inherited by autosomal recessive pattern. That means the mutation has to occur in both copies of the gene in the cell. In this case each parent carries one  copy of the mutated gene in their DNA. However, that does not mean that either parent has to actually be affected by the disease.

There is no specific treatment for the disease. The most common therapies are daily exercise and movement. The goal is to have as much movement as possible, and not too much rest. Rest is what creates the muscle stiffness after the movement has occurred. If the patient is suffering greatly, doctors can prescribe a few different medications to alleviate the pain and stiffness. Physical therapy and rehabilitation therapy is also common for patients with myotonia congenital. There is no cure to the disease, but with therapy and medication the condition can become less severe over time. Hence, the goat we saw earlier can go back to being cute and fluffy in no time, don’t worry!

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Overall, myotonia congenita is not an extremely rare disease. It affects about 1 in 100,000 people worldwide. Strangely enough, in northern Scandinavia the disease is much more prevalent. It affect 1 in 10,000 people. No studies have observed why the genomic data of people in this region are at a higher risk for this condition.

Keep it cool,
K

4 thoughts on “Myotonia Congenita

  1. I have to say, fainting goats are great. They are spontaneous and fun to watch on youtube! But I didn’t know it was a specific disease! I find that very interesting. Your blogs have been extremely enjoyable and I have liked reading them throughout the semester. Keep it real -A

  2. Karam,
    I’m distressed that you never gave us an update on the goat. Was it harmed? Did it ever get up again? How did it feel after the incident? That being said, your post about a super cool disease was quite enjoyable to read. I’ve enjoyed your posts this semester!
    Alayna

  3. Both my grandmother and two uncles had muscular dystrophy… Not completely the same, but similar.Unfortunately, my grandma lived to the age of 55 and my uncle to the age of 50. My other uncle is still with us, but he definitely does not do the right amount of exercise to stay healthy. When my mom wanted to have kids she got a genetic test to see if she was a carrier. Thank god she wasn’t. It’s really unfortunate that both my uncles lived a completely healthy life until they were in their 20’s and were diagnosed with muscular dystrophy. Thanks for sharing, it speaks to me on a very personal level!

  4. LOL aww poor goat! This disease reminds me of another disease that seems similar. I learned about it in a documentary. I don’t know if it’s the same one, but there’s a condition where a person’s muscles almost everywhere in their body will contract and never relax. Only when they’re sleeping will their muscles relax. This one guy had the condition and you could see he was like all muscles, super ripped. Of course it’s more of a minus than a plus when you have the disease…

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