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 ...
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