Pregnant Lindsey Dawn

ERG, EMG and EMG pupillometry New

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!

What Else Can Look Like Cold Sores

and it continues to advance

Yesterday afternoon, I had an appointment at reference center for rare neuromuscular diseases Nantes to retake an EMG on the request of my neurologist Nantes. Arriving in the torture room, the doctor wants me smile all a "Happy Birthday!" it's very nice, it touches me deeply, but it was not my birthday :-) Small error on the date of birth, 23.4 became 24.3.

Professor Pereon was accompanied by an internal, 3 external and especially thanks to whom I could benefit from detailed explanations provided to them :-)
So I'm here to suspected disease Brody, you do not know, this is normal, including rare diseases there are also very rare, in this case only 6 cases in France are described. After a quick examination that identifies the various symptoms (myalgia, muscle fatigue, muscle stiffness sometimes, spasms, paralysis oculomotor, photophobia, nystagmus), we begin the EMG. The acquisitions were made on the muscles of the arm, hand and face, and show: an increment action potentials after a brief effort , which I understand is compatible with the disease Brody, followed by a decrement which was obtained only once and then without much meaning, it is still worth being re-explore the track myasthenia gravis, and finally a myogenic syndrome (" Multiphase course spread over a very small contraction). By cons got no myotonia, which bothers him a bit because the presence whether myotonic discharges is an important element in the direction of research, and here we are left with an EMG done in Toulouse which showed myotonic discharges and EMG did not show any day ... Knowing in addition that the disease does not cause Brody ... Not easy!

Well, no straight answer can not be absolved of this review, but the doctor told me:
- Brody's disease is "possible" , I'll do a blood test Tuesday that will be sent to the Pity -Salpetriere to test this hypothesis,
- myogenic syndrome may also be compatible with a mitochondrial the ocular symptoms also, especially oculomotor paralysis, and since this type of pathology can cause retinal problems and I am very photophobia, I'm going to check an ERG retinal
- need to do more tests, I do not know the nature, except that I realized that I would pedal a bicycle,
- if I MSSA are myogenic, that is not excluded, this may explain the failure of Botulinum toxin as it works by blocking transmission at the neuromuscular junction, it is therefore normal that there are insensitive myogenic disorders.

So after the program is: I returned Tuesday morning to serve functional investigations, we will do the blood test to analyze ion channel, an ERG and pupillometry.

A Tuesday ...