Examples of the physical effects of myotonia congenita
As already described, the physical effects of myotonia manifest themselves as stiffness or rigidity. This is particularly pronounced following a prolonged period of inactivity. Common examples are:
– standing up and beginning to walk after sitting in a chair.
muscles affected: the leg muscles are predominantly affected in this example and depending on the severity this may extend from the hips all the way to the feet. Depending on the severity of the myotonia this may extend throughout the back and torso.
what it looks like: to an observer this can be observed as the leg remaining almost completely straight with no bend in the knee at the beginning of the movement. After a few seconds the movement should proceed as normal as the muscle becomes subject to the “warm-up effect” and at that point the person will be able to walk away seemingly without problems.
– walking up stairs
muscles affected: the leg muscles are predominantly affected in this example and depending on the severity this may extend from the hips all the way to the feet. Depending on the severity of the myotonia this may extend throughout the back and torso.
what it looks like: the leg remains straight, inabiltity to bend at the knee. Leg is swung from the hip joint to make progress up the stairs. The sufferer may stop or proceed very slowly waiting for the warm up phenomena to take effect and allow normal progress.
– eating / chewing
muscles affected: musculature of the jaw, face, tongue, neck.
what it looks like: when food is first placed into the mouth, initial mastication movements may appear laboured, slow and strenuous. This may also be apparent by observing the neck muscles which may appear strained.
– speaking
muscles affected: musculature of the jaw, face, tongue, neck.
what it looks like: difficulty opening mouth and moving tongue to formulate sounds correctly. This is most evident in the slightly slurred sound of speech as the sufferer strains to move their mouth and tongue correctly to speak. This may also be apparent by observing the neck muscles which may appear strained.
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