Neurological stuff
May. 8th, 2014 10:19 pm![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
valarltdSome of you have heard me talk about my problems. I have Roussy-Levy syndrome.
In 1926, scientists Gustave Roussy and Gabrielle Lévy reported 7 cases within a same family of a dominantly inherited disorder over 4 generations. They noticed that prominent features of this disorder were an unsteady gait during early childhood and areflexia, or the absence of reflexes, which eventually lead to clumsiness and muscle weakness. During a nerve biopsy of a few of the original patients, the demyelinating lesions found led the scientists to believe that the Roussy–Lévy syndrome was a variant of demyelinating Charcot–Marie–Tooth disease.
So what is it?
It is "a rare genetic disorder of humans that results in progressive muscle wasting. It is caused by mutations in the genes that code for proteins necessary for the functioning of the myelin sheath of the neurons, affecting the conductance of nerve signals and resulting in loss of muscles' ability to move.
The condition affects people from infants through adults and is inherited in an autosomal dominant manner. Currently, no cure is known for the disorder."
What does this do, and which of these do you show, Angel?
The symptoms stem from nerve damage and the resulting muscle atrophy:
absent tendon reflexes (areflexia): You can wallop me with the little rubber hammer all day and nothing
distal sensory loss: I don't have good sensation in my hands and feet
decreased excitability of muscles to galvanic and faradic stimulation: Thoser who know how much I like the Violet wand will argue this, but I remember being hooked to machines one summer and shocked a lot.
weakness of distal limb muscles (especially the peronei): My legs and feet are strong, because I use them and exercise. If I quit, I lose the ability to get out of my chair.
gait ataxia: I walk funny. There is no rhythm to it for more than a few steps, I have trouble standing on one foot.
pes cavus: high arches. My feet do not go flat when I walk.
postural tremors and static tremor of the upper limbs: explanatory. I don't have these yet.
kyphoscoliosis: this is scoliosis caused by a hip deformity. Mine is not.
foot deformity: nope, mine are fine
Can it be fixed?
There is no treatment. There is physical therapy if the symptoms are bad enough. My sister,![[livejournal.com profile]](https://www.dreamwidth.org/img/external/lj-userinfo.gif)
jlm121 also has this, and did physical therapy. My father has it as well, and seems to be doing all right.
So what does this mean?
It means my body may or may not get weaker as I age. It seems to be. I have more trouble doing things than I did even a year ago. It means my coordination will likely get worse. Should it get too bad, I may be a danger to myself because I can't feel pain.
Now you know. And knowing is half the battle.
(very large rocket launchers are the other half)
In 1926, scientists Gustave Roussy and Gabrielle Lévy reported 7 cases within a same family of a dominantly inherited disorder over 4 generations. They noticed that prominent features of this disorder were an unsteady gait during early childhood and areflexia, or the absence of reflexes, which eventually lead to clumsiness and muscle weakness. During a nerve biopsy of a few of the original patients, the demyelinating lesions found led the scientists to believe that the Roussy–Lévy syndrome was a variant of demyelinating Charcot–Marie–Tooth disease.
So what is it?
It is "a rare genetic disorder of humans that results in progressive muscle wasting. It is caused by mutations in the genes that code for proteins necessary for the functioning of the myelin sheath of the neurons, affecting the conductance of nerve signals and resulting in loss of muscles' ability to move.
The condition affects people from infants through adults and is inherited in an autosomal dominant manner. Currently, no cure is known for the disorder."
What does this do, and which of these do you show, Angel?
The symptoms stem from nerve damage and the resulting muscle atrophy:
absent tendon reflexes (areflexia): You can wallop me with the little rubber hammer all day and nothing
distal sensory loss: I don't have good sensation in my hands and feet
decreased excitability of muscles to galvanic and faradic stimulation: Thoser who know how much I like the Violet wand will argue this, but I remember being hooked to machines one summer and shocked a lot.
weakness of distal limb muscles (especially the peronei): My legs and feet are strong, because I use them and exercise. If I quit, I lose the ability to get out of my chair.
gait ataxia: I walk funny. There is no rhythm to it for more than a few steps, I have trouble standing on one foot.
pes cavus: high arches. My feet do not go flat when I walk.
postural tremors and static tremor of the upper limbs: explanatory. I don't have these yet.
kyphoscoliosis: this is scoliosis caused by a hip deformity. Mine is not.
foot deformity: nope, mine are fine
Can it be fixed?
There is no treatment. There is physical therapy if the symptoms are bad enough. My sister,
jlm121 also has this, and did physical therapy. My father has it as well, and seems to be doing all right.So what does this mean?
It means my body may or may not get weaker as I age. It seems to be. I have more trouble doing things than I did even a year ago. It means my coordination will likely get worse. Should it get too bad, I may be a danger to myself because I can't feel pain.
Now you know. And knowing is half the battle.
(very large rocket launchers are the other half)
