The series continues with 2:30 hours spent in the service of functional exploration of the Hotel-Dieu. In the order I had a pupillometry, an electro-rétinogramme, another EMG, and finally the blood for new DNA testing.
Then: The
pupillometry shows a speed of pupil constriction of 5.5 mm / s in the right eye and 4.3 mm / s to the left eye, which speeds are a little too low for my age.
The ERG shows discrete anomalies with a certain asymmetry of responses in photopic condition, "in favor of the predominantly left central lesions. As I always photophobia unexplained, it is preferable to have the advice of a specialist ophthalmologist in the retina.
Then I got a short video of my oculomotor unusual, so comment "looks like an inter-nuclear ophthalmoplegia upside down" and then a close-up that evokes a lot of oculomotor myotonias.
the EMG : Prof. Pereon chose to remake an EMG, to find these famous as myotonic missing last week. This time he pitched at the level of the orbicularis of the lower eyelid, although according to him it is never where we search the myotonias, but in any case well because he took after forced closure of the eyelids and reopening, he received several rounds myotonic. Then he did the same thing at the lip after he'd put the ice, and like several myotonic discharges. This explains the transition that I can not speak properly when it's cold ...
I also have a very rapid depletion of muscle reflexes / tendon because after 2 stimulations nothing answered.
This new test allows the shot to make sorting: the myotonias not found in the mitochondrial cytopathies, or in myasthenia gravis, so we dropped these tracks to return to channelopathies.
- The blood finally Genetic analysis of ion channels . The sample will be sent to Paris at the Pitie-Salpetriere, and I results in a delay of 3 to ... 12 months ...
PLAN ON THERAPEUTIC :
For my muscle condition (fatigue, myalgia and myotonias rebels ...): I Quit dantrolene and the lyrics, instead I'm leaving with a Order Mexitil (mexiletine) . It is a drug that is no longer marketed in France but who has an import when it's for the treatment of myotonia, which is the only effective molecule. It is available at the central pharmacy of the hospital. By cons it is necessary to have the green light on the cardiologically before starting, so I called my cardiologist this morning who told me it was impossible to reconcile the beta-blockers (lopressor) I takes for migraine headaches, with Mexitil, both of which are cardiac humps with a bonus for the arrhythmogenic effect Mexitil. So I have to stop Lopressor, then start mexiletine after 5 days, and examine cardiac (ECG + Holter) 1 week after controlling for tolerance.
Suite program : I provide a written description to the neurologist my type of nystagmus, I am examining the retina Mexitil I start mid-April, I heart my record on April 23 (day of my 20 years), I returned to Toulouse for a new injection of botulinum toxin 29 April, I resumed appointment with the neurologist to find another DMARD cons migraine, Case lopressor forces, and ... I await the test results!
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