Re: myoclonic epilepsies

[Guest guest]

(and everyone)

If PME is a result of something inborn can they still start at almost

4 yrs old? That is something that just has me baffled - why did it

wait almost 4 yrs before starting - I am glad we went 4 yrs without any

seizures but why now - what happened that it started??

Lately Mike has the myoclonic before the drop attacks - but he does

have generalized tonic clonic - actually now they are in the early morning

(6-7am) and the ones he used to get more frequently were still early am.

This is the type he started with but we havent seen too many since the

diet seems to be kicking in more now

So if all genetic tests come back "normal" (I am really beginning to

hate that word!) then MAE is probably going to be the diagnosis.

I think right now I am so terrified of LGS that I will take anything less

severe - however I guess MAE can be just as bad cant it? Mike has

had seizures for almost 8 months (a short time compared to many of your

children) and so far I havent noticed too much more than behavioral changes

(except that he cant recit his ABC's anymore and he has known them since

he was two)

Thank you so so much for all the information! .

Jenn

richard & susan hill wrote:

Have

to hurry here, but this is a summary on the info I have on MAE. When I

looked for other info on severe myoclonic eilepsies, I decided the details

vary too much between papers to be able to summarise properly. Severe Myoclonic

Epilepsy of Dravet, is also known as The Malignant Myoclonic Epilepsy of

Dravet, yet one journal excerpt says it was inaccurately named, as the

outcome could be benign. This differs from other articles I have read,

I would suggest tapping into Medscape or Medline, and see what you come

up with. Juvenile Myoclonic Epilepsy, which has a favourable prognosis,

doesn't start until late childhood, some say 8 or 10 yrs onwards, so I

have never looked too deeply into this one.The

Progressive Myoclonic Epilepsies (PME's) are as a result of inborn errors

of metabolism, or mitochondrial diseases, such as MERRF, MELAS, Batten's

disease, etc. These are what the various biopsies and blood enzyme assays

are for, as well as in depth urine studies. The resultant epilepsy is a

secondary manifestation of an underlying genetic metabolic disorder.There

is very little written about MAE, so not too many articles to conflict

each other! Myoclonic

Astatic Epilepsy of Early Childhood, also known as MAE or Doose Syndrome

: Similar to Lennox Gastaut Syndrome, a mixed generalised seizure disorder,

but without the 'classic' LGS eeg pattern, and without tonic seizures (except

in rare cases at night between 4 and 6 am). Predominant seizure type is

myoclonic astatic, where a myoclonic jerk precedes the drop attack. Also

seen are myoclonic jerks of limbs, including irregular twitching of extremities

and facial features, and astatic seizures, or drop attacks. Absences are

also seen in more than half the cases, as are generalised tonic clonic

seizures. (GTC was 's presenting seizure type, but we rarely see

these now). The child is almost always neurologically normal before seizure

onset, there is never an underlying cause, eg, metabolic, brain malformation

etc, as there often is in LGS. Focal seizures are also absent.The

eeg pattern depends on the predominant seizure type, and during sleep,

spike and wave is regularly activated. Photosensitivity is common, but

does not always show until age 5 onwards. The background rhythm slows during

periods of frequent seizure activity, but usually reverts to back to normal,

with stable alpha rhythmpresent.

This is in contrast to LGS where the background activity is almost always

slowed, even when no seizure activity is present. During bouts of status

in MAE, usually minor motor status, continual absences with twitching of

extremities are seen, often interspersed with more violent myoclonic jerks

(this is what has been through with the chicken pox) The eeg during

status shows 2-3 c/s spike and wave, and continuous activity resembling

hypsarrhythmia.Differential

diagnosis between MAE and Infantile Spasms (when seizure onset is in a

younger child, ie, 6 mths to 2 yrs), is usually made when the predominant

seizure type is myoclonic (and therefore polyspike and wave on the eeg),

and when the seizures do not come in the 'series' of spasms (often tonic)

seen in infantile spasms. Hypsarrhythmia is almost always present on the

eeg with IS, even when the child is not clinically seizing.Prognosis

of MAE is variable, the outcome ranges from spontaneous remission in about

52 % of cases, often from age 7 onwards, to a malignant course with the

progressive dementia often seen in LGS. Males are affected twice as often

as females. Treatment options include valproate and ethosuximide, with

ACTH indicated for refractory minor motor seizures, and primidone for tonic

clonic seizures. Bear in mind that most of the info I have typed here is

from the paper written by Herman Doose himself, and is dated 1992, with

a lot more meds available now. (Not that any treatment except the diet

have helped !)There

is almost always a genetic link, a close relative with epilepsy, even if

it is a benign type syndrome that the relative may have. I have a first

cousin with epilepsy, that started when she was 2 yrs old, this is apparently

a close enough link to fit into this diagnosis. Feel

free to ask me more, will answer when I can. Have to go and do the swap

at the hospital with 's Dad.

Hill, mother to 5, 7, and 21 mths in NZ

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