My son is now 18 months and born 6 weeks early(he has a twin brother also). The first months were very hard.
When he was 14 months he was doing "weird". The neurologist thought that is was epilepsie but after 3 eeg's (1 of 24 hours) we know that it's not.
Oke what's he doing? He wakes up and has te cry. His arms and legs are shuddering. When he sits its looks like he's sitting in a bus. You know what i mean? In a bus who is driving on a bumpy road.
Standing is very hard and walking too. Sometimes it lasts a couple of minutes. But sometimes 20 minutes. (1 time he was stiff for minimal 1 hour, after surgery, when he was at home)
Some weeks he has it almost every day or night and some weeks he has nothing.
When he has it he wants to lay down. Then its less. 1 time his eyes were half closed and his eyes were going from right to the left. Fast.
Parents of children with episodic ataxia or people who have episodic ataxia do you recognize this? It's very rare so not much to find on the internet. And neurologists don't know much also...
The neurologist thinks it episodic ataxia maybe... or maybe something else....
Thanks for reacting!
If you want to know more about his attacks...please ask. (sorry for my bad english ;) )
How's your ataxia have been diagnosed? Did you get a blood test? Or diagnosed because of the symptoms?
My son is very young so i can't aks how he feels... The type 2 the attacks are lasting long! I read about that. The type that fits the most is type 3... but that one is even more rare!
I found this about EA3:
Episodic ataxia type-3 (EA3) is similar to EA1 but often also presents with tinnitus and vertigo. Patients typically present with bouts of ataxia lasting less than 30 minutes and occurring once or twice daily. During attacks, they also have vertigo, nausea, vomiting, tinnitus and diplopia. These attacks are sometimes accompanied by headaches and precipitated by stress, fatigue, movement and arousal after sleep. Attacks generally begin in early childhood and last throughout the patients' lifetime. Acetazolamide administration has proved successful in some patients.[30] As EA3 is extremely rare, there is currently no known causative gene. The locus for this disorder has been mapped to the long arm of chromosome 1 (1q42).[31]
Clinical Features
Steckley et al. (2001) presented a large Canadian kindred of Mennonite heritage with an autosomal dominant episodic ataxia clinically distinct from other reported episodic ataxias. Vestibular ataxia, vertigo, tinnitus, and interictal myokymia were prominent. Attacks were diminished by acetazolamide. At least 26 members of the family were affected; 12 described frequent bouts of interictal myokymia. Myokymia was visible in 1 patient upon examination. Steckley et al. (2001) distinguished the disorder in their family from the features of EA1 by noting the presence, in their family, of vertigo and tinnitus, neither of which is typical of EA1. Similarly, the absence of interictal nystagmus and shorter episodes distinguished this disorder from EA2 (108500). The variable age of onset contrasted with the typical EA1 onset of late childhood or early adolescence, and the typical childhood onset of EA2. Although vertigo and tinnitus were also prominent in periodic vestibulocerebellar ataxia (PATX; 606552), Steckley et al. (2001) noted that PATX differs in having abnormal eye movements, including abnormal smooth pursuit, nystagmus, and abnormal vestibuloocular reflex; no response to acetazolamide; and absence of interictal myokymia.
No he haven't had a MRI. When he was 11 weeks he had an echography of his head. So we don't know of his cerebellum is shrinking. Maby that would be the next step.
Ik could be diagnosed in genetics...how do you say that....DNA? in some EA's there are errors on chromosomes. They can research that.
(in the Netherlands they can't test if you have EA3) I think they know much more in the USA.
How long do the research for your child is going on? It looks like a very long process.... What for symptoms your child have? And how old is he/she?
My son have had 3 eeg's to exclude epilepsy. The neurologist thougt that he had epilepsy. He send us to a special instituut with special epilepsy neurologists. There was noting on the eeg so he has no epilepsy. The epilepsyneurologist now thinks of episodic ataxia but he said also something about intermittent or paroxysmal ataxia.
I want to whish you succes with all of the reseach! Will you keep us informed about the progress of the research? (i ve send you a friendship request ;) )
Today we went to the neurologist. We don't know more but the neurologist send us to a academic (university)hospital. There work specialised neurologists. In the Netherlands you have the regional hospitals and academic hospitals. Our neurologist works at a regional hospital. At the academic hospital they know more but you have te be refferd to it.
I hope you find the answers to your sons possible ataxia. I have sporadic cerebellar ataxia and was 50 years young before I noticed something was wrong. Therefore, I'm sorry as I'm not able to help you. I'll be thinking about you and your son and hoping for the best!
Sporadic cerebellar ataxia non-hereditary/unknown cause, which means no one in my family has ataxia and my neurologist doesn't know why I have it. It affects my balance, gait, dexterity, speech and swallowing. I have these symptoms all the time. I believe "episodic" means the person has ataxic symptoms lasting 30 minutes to possibly hours, not 24/7 like mine. I'm far from being an expert, so you're best bet is to look up both on the net or ask your physician...best wishes!
We don't heve all the results yet. The MRI was oke and he has no metabolic disease. He don't have episodic ataxia type 1 too. But the DNA results of episodic ataxia type 2 wasn't there. So we have to wait till next week for this result.
If he don't has ea type 2 he will be hospitalized for a couple of days for more research...
pffff it's hard to not know what youre son is suffering from. Thuesday he had an attack. He was very and his eyes were going from the left to the right. It looks like he was sitting in a carrousel... Thursday he had a smaller attack. He was a bit wobbly.
(he was sick and when he's sick he has more attacks.)
So this is my update. hopefully we will soon know more
It's good your son is getting tested! I'm sure it's stressful for for you as you're the mom, and you want your child to be alright. I know, as my children are grown now, but when they were young, I spent a lot of time worrying about them, especially when they were ill. We want the best for our children as we love them so much! I'm thinking about you and your son and hoping you'll have answers soon!!! Thanks for the update... ;o)
• The child may appear startled or frightened by the sudden loss of balance, which is accompanied by brief nystagmus and/or pallor; consciousness is always preserved.
Benign paroxysmal vertigo is primarily a disorder of infants and preschool children. The disorder may, however, develop in older children. The onset is usually between 2 and 8 years of age, but cases beginning before 6 months of age have been described. An otherwise normal child suddenly, and without warning, becomes vertiginous. Vertigo is so profound that even a sitting posture cannot be maintained. Neither the initiation nor the severity of the attack is influenced by head or body position. The child becomes pale, is clearly frightened, and may lie motionless on the floor. Infants indicate the need to be held by a parent. Consciousness is not altered, and headache is not reported. Verbal children always describe that either they are rotating or the environment is spinning. The sensation of rotation is the initial and primary feature of the attack. Nausea or other abdominal discomfort may follow. Episodes usually last for seconds or minutes, but on rare occasions they may continue for hours. The child wishes to remain absolutely still. After the vertigo subsides, the child is unstable and briefly appears ataxic. Nystagmusaccompanies the vertigo, but is often not reported. The neurologic examination is otherwise normal.
The attacks are stereotyped. Episodes can recur at irregular intervals—sometimes several in 1 week. More often, they recur once a month or less. With time, the attacks either cease completely or evolve into a more common migraine syndrome. The evolution of the condition may first include the additional feature of vomiting and then headache with the vertigo. The vertigo becomes progressively less severe and may disappear altogether. Some children complain of vertigo or dizziness as an initial feature of later migraine attacks.
His last attack was saturday. He had to cry and vomit. Within 5 or 10 minutes it was over. But sometimes it lasts longer. He has much attacks so he will get medications. Propranolol. But first he must go to the cardiologist because of this medicine.
I'm glad you finally got a correct diagnosis! Now your son can get the treatment he needs to feel better! I think your English is wonderful! Thinking of you all....;o)
Good that you have a diagnosesis, although good is relative in these circomstances… But the word ‘benigne’ is surely a good thing, at least it is not malignant!
What are the prospects for your son? Does it gradualy fade and will he be able to lead a relativaly comfortably live with this? I hope this news brings your familly releave and finaly some rest!! Keep pushing the doctors for details and treatment so you can work on taking controll again. I wish you the Best of luck and lots of strenght.