PME?

[Guest guest]

Has anyone's child been diagnosed with Progressive Myoclonic

Epilepsy? This may be premature but Mallorie may have this type of

epilepsy. She is being scheduled for a 24 hr. video EEG and MRI. She

will also see a metabolic specialist in February. From what I have

read this is a progressivly degenerative type of epilepsy with a poor

prognosis. We just saw another neurologist who thinks that Mallorie

did not fit the profile of infantile spasms and that she probably has

PME. She is 3 yrs. old. and started having seizures at 10 months.

Thanks for any feedback.

(Mallorie's mom)

[Guest guest]

Dear ,

This pharmaceutical company may be able to help you in your search

for information to help Mallorie. Their parent company in Italy is a

leader into research on mitochondrial and metabolic disorders.

http://www.sigmatau.com/community_s.html

This will take you to Sigma-Tau, who produce " orphan drugs, "

specialized medications for people with rare disorders. They have

proven a good resource for finding specialists in metabolic disorders

and patient resources and information. If you click the link

on " Physician's Corner, " it will take you to an article on Dr.

Winters, in California. You or your physicians may find them a good

resource for information and locating specialists as well. The

address to contact them is on the web site. They sent me tons of

information for patients and physicians about metabolic and

mitochondrial disorders, when I requested it.

Below are other links you may find useful.

Zoe

http://www.rarediseases.org

--National Organization for Rare Diseases--abstracts, information and

resource links.

http://www.aichroma.com/ncbi/290801.htm

Huntington's Disease presenting as PME

http://seizure.health.ufl.edu/personnel/uthman.html

Specialist at U of Florida's Comprehensive Epilepsy Program who has

a special interest in the study of free radical scavengers in PME (he

also is into VNS implants for intractable seizures).

http://www.faseb.org/genetics/ashg99/f2649.htm

-- technical article on a mitochondrial disorder of which PME is a

part. Myoclonic seizures and lactic acidosis are common symptoms.

http://www.sigmatau.com/community_s.html

Community page for Sigma-Tau.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD= & DB=PubMed

--link to PubMed. A search on " Progressive Myoclonic Epilepsy " turns

up 85 abstracts on PME.

***

http://www.umdf.org

This is the United Mitochondrial Disease Foundation, another

resource, with a library and many links.