Saturday, July 4, 2015

Myotonia Congenita

Today, I'll share some information I recently discovered.

myotonic goat, otherwise known as the fainting goat, is a domestic goat whose muscles freeze for roughly 10 seconds when the goat feels panic. Though painless, this generally results in the animal's collapsing on its side. The characteristic is caused by a hereditary genetic disorder called myotonia congenita. When startled, younger goats will stiffen and fall over. Older goats learn to spread their legs or lean against something when startled, and oftentimes they continue to run about in an awkward, stiff-legged shuffle. via


Congenital myotonia (also myotonia congenita) (Myo- from Greek; muscle, and Tonus from Latin; tension), is a genetic, neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). The disease was first described by Danish/German physician Julius Thomsen in 1876, who himself suffered from the disease.[1] The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles (myotonia) and rigidity.[2] The disorder is caused by mutations in part of a gene (CLCN1) encoding the ClC-1 Chloride channel, resulting in muscle fiber membranes to have an unusually exaggerated response to stimulation (hyperexcitability). Symptoms include delayed relaxation of the muscles after voluntary contraction (myotonia), and may also include stiffness, hypertrophy (enlargement), transient weakness in some mutations, and cramping. via

Why am I sharing this?

Because I think, I'm suffering from this disease. 

When Chloe was younger, hinihimatay siya tuwing umiiyak ng matindi. Madalas mangyari yun. Nakaka-trauma kasi pakiramdam namen mamatay siya. There was one time, nadulas siya at nauntog ang ulo. Umiyak ng matindi tapos nawaln ng malay. Hindi namen magising. Nakita ko yung labi niya, namuti na at nanlupaypay na yung mga braso niya. Tarantang-taranta kame. Nagsisigaw. Karga-karga siya ni Duz that time. Sabi niya tatakbo na daw kame ng hospital.

I was so shocked. I froze.

Nasa kanto na si Duz nung narelaize niya na hindi ako nakasunod. Binalikan niya ako sa bahay at nakita niya ako na nakatulala sa likod ng pinto. Haha. Natatawa na lang ako ngayon pag naalala ko yun pero nakakatakot talaga.

Buti na lang yung mga kapitbahay namen tinulungan kame. Pinisil nila yung tiyan ni Chloe at narevive siya. 

After that, pinag-sabihan ako ni Duz. Pag may mga ganung sitwasyon daw, dapat may presence of mind ako. Hindi pwedeng magfi-freeze na lang ako sa isang sulok.

Napansin ko, ganun nga madalas ang reaction ko kapag nagugulat ako or natataranta.

For example, last week on my way to work, tatawid sana ako eh may rumaragasang kotse. I froze. Hindi ako nakagalaw. I didn't step back nor step forward. Oh my G talaga. Kinuwento ko yun kay Duz, pinagalitan ulit ako. Madidisgrasya daw ako sa ginagawa ko.

Frozen, hindi yung movie -- ako! Ako na lageng nagfi-freeze. Gosh.


via
The funny side, he enjoys my reaction whenever he pranks me. Naku, madalas niyan ako ginugulat at gumugulong siya kakatawa dahil sa reation ko. Sabi niya nga i-vi-video niya daw tapos ico-compile at i-u-upload sa Youtube. Subukan niya lang!

Anyway, kelangan ko siguro 'to ma-overcome. 

How about you? How do you react when you're scared, shocked or surprised?






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