Clinical presentation
Adrian Toplician, 30 years
Medical description
The first symptoms have occurred in 1997, 21 years old (until the age of 21 there was no major health problem), when the manifestations have been in the form of light shakings of the arm muscles, painless and without other uncontrolled movements as you may see further on. I presume that everything started after a seriously problem that I have with gastrointestinal tract. (Diarrhea).It should be noticed that it was a period which involved a lot of stress. Later on that year (after 6 month approximately), the light shakings have turned into painless muscle contractions. I felt how the muscle was contracting itself and became harder, but I didn’t feel any pain.
I consulted a generalist who, without too many explanations, he stated that it was about Spasmophilia. I was recommended to take Lactic Calcium and A+D2 Vitamin (until the end of 1997). Afterwards, I took some blood tests and the next doctor had noticed that the calcium level within the organism was insufficient and there was the possibility of an assimilation problem of the calcium by the body. He recommended me Calcium and Magnesium administered intra muscular mixed with D2 Vitamin. Moreover, at the end of 1998, I was recommended Pentoxifylline. Even if the results came out good (the calcium and the magnesium levels had the right limits), the symptoms had persisted. I was prescribed Fasigyn mixed with Pentoxifylline.
On October 1998, during another examination, it was noticed a neurological problem (the diagnosis wasn't clear at all); therefore I have tried different medicines like: Xanthinol-nicotinat and Fenilbutazona.
All this time, the symptoms worsened, namely the simple muscle shaking turned into involuntary movements of the hands, uncontrolled but still painless. Many times, I couldn't write or eat by my self. (But no pain).
I took once again some blood tests (Ca, Mg, VSH, and ASLO). The same result as before: there was any problem detected.
One year later (the end of 1999) the symptoms had worsened again. I felt involuntary movements of the upper limbs, contractions, muscular cramps, at the beginning not too painful, but, step by step, they had worsened especially when I was exposing myself for a longer period of time (but not exaggerated) to the sunlight or to cold. The muscular spasms had become very painful, feeling them all over my body. Therefore, I avoided these kinds of exposures and I didn't consume any more coffee and cigarettes.
I kept going to different neurologists. Therefore, I followed a treatment with A+D2 Vitamin, Mydocalm and Calmepam. There were some sedatives that were reducing the concentration power and inducing a long-lasting sleep. For a while I didn't feel any pain (for a couple of hours) but then, I felt it again, even if I kept going on this treatment.
Another doctor had prescribed me a treatment based on Piracetam, Sermion and B6 Vitamin. Same observations: the symptoms were the same. The difference was that the involuntary movement was followed by muscular cramps all over the body (more precisely, the involuntary movement and the muscular cramp were “blocking” the muscles, and it starting to look like a discharge due to the the speed of movement). For instance: the fingers, the mandible, the nape muscles were blocked; after one of these muscles was “calmed down”, the same thing was happening to another part of the body. When the right arm muscles were not blocked any more ended by successive shakings, the abdominal muscles or the leg muscles were blocked, or many other muscles, but seldom in the same time. (The contractions/pain moves from one part of the body to another).
I took into consideration a neurological problem without having any diagnosis, and I took medicines like: Peritol, Calmogen, Aspacardin, but the symptoms have remained the same.
My first diagnosis was Neuromyotonic Syndrome, and the treatment was the following: Predmison, Xantinol-nicotinat, Clorzoxazona, Diplophos, Piracetam and Calcium + Magnesium.
After this treatment, the symptoms had worsened, meaning that I couldn’t sleep during the night because of the pain caused by the cramps, I couldn’t eat by my self and the involuntary movements and the muscular cramps were often and extremely painful (I couldn’t hold my hands out-stretched; the same thing is now). I quit taking it due to the pains I felt so strongly. (It happens at the beginning of 2000).
After another specialized examination (couple of months later), the diagnosis was Choreiform Syndrome (Chorea) and the treatment was based on Grandaxin, Tiapridal, Akatinol, Tioridazin .Of course, I had to give up to the previous treatment.For approximately two month, the muscular cramps were reduced but, later on, the symptoms appeared once again with the same intensity even after continuing the treatment.
After this, I underwent a CT (SKULL). Result: normal aspect. Due to the unbearable pains, I was recommended some sedatives like: Oxazepam, Peritol, Paduden and Meclofenoxat that had adverse reactions: tiredness, reduced power of concentration. The treatment “worked” for no more than two months.(2001)
At the beginning of 2002 the diagnosis was Encephalitic related (“brain cold”). Due to the fact that I has a problem, when I was child (3 years old), with high temperature and 10 days in a hospital, this was a link to that diagnosis. The medication was based on Piritinol.
After another specialized (at the begging of 2003) examination, the diagnosis was Dystonic-Diskinetic Syndrome when I followed a treatment with: Haloperidol, Carbamazepina and Rovatim (Provatim) without any positive result (same adverse reactions of strong dizziness).
I was recommended a more detailed investigation: MRI The aspect was normal: intra and extra cerebral fluid spaces with normal aspect, infra and supra tentorial cerebral structures with normal aspect, cerebral vessels with normal aspect, hypophysis – orbits with normal aspect and without pathologic contrast substance. The investigation has been performed only to the skull using the contrast substance and the following technique: T1 sagittal, coronary, native axial and sdc; Ts PD axial.The treatment with Haloperidol (Haldol) was taken two months.
Couple of months later I made another investigation, Keiser Fleischer Ring with normal aspect. The treatment based on the same diagnosis, Dystonic – Diskinetic Syndrome, consisted in Rivotril (Clonazepam) at the beginning one dose of 1 mg/day, after which the dose had been increased on the doctor’s prescription to 6 mg/day, Cloroxazon 1200 mg\day, as well as Ibuprofen 400 mg\day.
Practically, until the first half of 2003,(for almost one and a half year) I kept taking the here above treatment, when, due to the lack of concentration and strong pain, I gave up to Rivotril. The consequences were hard, including unbearable pains, a feeling of total „torpidity”, attenuation of the senses, etc. During two months, the effects disappeared step by step, but not for good. The doctor also recommended me RUPAN (an antiparkinsonian).
I made another investigation MRI to the cervical column with the diagnosis: Susp. T.u. cervical marrow, technique: T1, T2 sagittal, T1 axial, coronary native + sdc. Result: Investigation of the column from clivus to T4 underlines a normal aspect of the vertebra, disks, medullar channel and its content.
I continued the treatment during the second half of 2003 and the beginning of 2004 with Clorzoxazon (myorelaxant) and Advil (because Ibuprofen wasn’t to be found in the drug stores). I was to another consultation (during a business trip in Vienna) on that period and the diagnosis was Extrapiramidal Syndrome.
In January 2004 I underwent a crisis (very strong cramps all over the body), not being to able to develop my activities. The treatment contains: Advil, Clorzoxazona, Neurontin (Gabapentin), Tiapridal, Clordelazin, Magnesium B6.
This treatment had produced a slightly improvement with a somnolence state.
The last diagnosis is Dystonic Diskinetic Syndrome severe form with no etiology established, and the medication is based on: Lioresal (Baclofen), Carbamazepina (Carbazep) and Hidroxizin.
One important (maybe) mention: If a take Lioresal alone (without Carbamazepina), there is absolutely no effect.
Last year (May 2004) I made some investigations in AKH Vienna Hospital, Austria
List of investigations:
EEG -normal results
EMG -normal results
Blood and urine test - normal results
Microbiology test - normal results
MRI (skull) - normal results
They suspect (Vienna specialists) a metabolism problem and the possibility of virus resident in my body, a muscle virus. After all the tests that was no clue for my symptoms (myoclonic spasms).
Final answer was: the possibility of a psychical/emotional shock (trauma) somewhere in the past and suggest also hypnosis.(that wasn't made)
Coming home, I try to get in contact with a psychiatric doctor (at the suggestion of Vienna specialists). After a psychological test, they put me on Seroxat, and later on, Anafranil, without quitting my current medication. (Lioresal 125 mg/day, Carbamazepina 600mg/day and Hidroxizin 75 mg/day.
After two month of medications I was feeling extremely bad, and the doctor told me to stop taking Seroxat and Anafranil.
LETTER OF REFERRAL (reflect very well the actual situation)
"To Dr. Nicolescu Hortensia Marilena.
We inform you that your patient, Toplician Adrian-Ionel, born on the 3rd of May, 1976, was consulted in our department on the 26th of July, 2004.Diagnosis: Myoclonic neuraxitis.
Onset at the age of 21 (1997) with slight tremors of arms, aggravated in time as myoclonic, and since 1999 they became painful, with generalization.
Risk factors: No etiology established.
On examination: BP: 120/85
Please see attached document.
Fundi normal07 / 27 / 2004
Toplician Adrian Ionel
Age: 27
Diagnosis:
Generalized painful myoclonic syndrome, under evolution since 1997.
Presently on clinical examination:
- modified sitting posture, aggravated in orthostatic position and while walking; stiff man with anteflexion of head and shoulders;
- quasi permanent involuntary movements, , more intense in the scapular girdle, especially on the right side, migratory and oscillating as amplitude, determined by severe contractions of different muscle groups, occasionally with ballistic movements. More intense risomelic muscular contractions also involve the cephalic extremity (de negation). Extensor muscles of spinal column are in permanent contraction. Postural versions are accomplished difficultly, especially those involving extension of arms. He cannot extend his arms toward his back.
- “Index-nose” test reveals oppositional tremor more accentuated on the right side
- No pyramidal signs, no objective sensitivity dysfunctions
- Cranial nerves within normal relations.Treatment recommended:
1. Relaxam 50 mg (tb X), ¼ or ½ tablets repeatedly, proportionately with the intensity and frequency of myoclonic episodes (¼ – 2 tablets daily)
2. VIREGYT K 1 – 1 – 1 capsules daily, after meals
3. Follow-up examination "
In July 2005 I was hospitalized --due to heavy muscular spasm, muscle twitches and jerks especially on my left shoulders — at an Intensive Therapy Unit (ITU) at a local hospital. I also developed rabdomioliza, CK = 8380 (39-308/U/L). After five days at ITU with strong myorelaxants and other pain painkillers like Diazepam (Valium), Dormicum, Lyrica, Urgendol, I was transferred to the neurological clinic where I keep taking medications like Lioresal (75mg/day), Carbamazepina (600mg/day), Valium (10mg/day), Nitrazepam (10mg/day, only evenings because otherwise I was unable to sleep) and for the first time Madopar (Levodopa + Benserazide), 250mg/day.November 2005, the symptoms are slowly ameliorated, but I still have many periods during the day when the pains are severe.
December 27, 2005: strong muscle spasms on the right shoulder this time put me in situation to be hospitalized for one month, starting again with ITU, where the treatment was based on: Baclofen, Madopar, Nitrazepam, Carbamazepina, Rivotril, Urgendol, Tiopental (Thiopental), Fenobarbital, Furosemid, Vitamins B1, B6, Lyrica, Tramal, Urgendol. After two days at ITU I was transferred to neurological clinic with treatment based on: Baclofen, Rivotril, Madopar, Carbamazepina, Valium and in the critical situation: Tramal or Urgendol.Rabdomioliza was also present, CK =1389 (39-308/U/L).
FINAL OBSERVATION:
It should be noticed that these manifestations are not constant.
Even if these manifestations are all over the body, there is an accentuation to the shoulders, where they appeared for the first time.
It has been noticed a symptom association, better said an aggravation (strong spasm all over the body) while the weather or the atmospheric pressure is changing (rainy or cloudy weather).
Moreover, the aggravation of the symptoms is due to a lasting exposition to the sunlight, especially to cold. If I do not respect my meal or sleep program (tiredness), would lead to the amplification of these symptoms. For instance, if I do not respect the meal program (very high dependence on meal program, sometimes I have to take five or six meals/day), I have strong muscle aches. (Even if I take the medications).
I mention that for 9 years the intellectual abilities have not been affected (memory, etc.), succeeding to develop my professional activity where I need a high level of concentration. (Working in testing hardware and software industries).
Now I’am not able to go to work actually I’am retired at the age of 28-- and, most of the time, I’am not able to eat by my self.
I also mention that there is nothing genetically related, something neurological in family or something else.
A personal conclusion is that, in most cases, everybody thought only to the “effect”, the “cause” being left out.