mitochondrial desease?

[olly]

this is something i have done exstensive research on over the past two years.
why? because i have a niggling feeling this could be in the family and could be my true diagnosis.
yes you read right,heres a few facts.

i had a brother who died about 18mths old ,i was about 5yrs old at the time.
he failed to thrive and had many health complications ,one being that he could not digest and keep his food down so was sick after every feed.
this was around 1970,they did not know what was wrong with him.

when i had genetic testing done before my diagnosis i asked my mum about my brother andrew,its always been a touchy subject with her .
she did not have any real answers as to what was wrong with him.

going further along,my mum became ill in her early thirties (like me)after a decade she was diagnosed with m.e.
she has always had a sensitive stomach and is sick ofton.
she has also had progressive hearing loss over the past decade or two and has had to wear a hearing aid (she is only 60 now)but it has got to the point were she is nearly totally deaf.
she went for a hearing test yesterday,they were suprised by the results and want to do further testing as it looks like its caused by a specific syndrome.
many with m.e are misdiagnosed .

at this point i should tell you that there are a few specific types of mitochondrial desease which represent with distinct symptoms such as stomach problems and early deafness.

some years before i developed symptoms of pls i had other health issues.
i had to see a heart specialist and i had two tia's within a space of a week.
also since birth i have had odd seizures but not ofton enough to be called epilepsy.
in the early years of pls i had some episodes were i had definate weakness down one side of my body for a week or two then slowly got better.
mitochondrial desease can cause stroke like episodes.

could it be possible my brother had congenital mitochondrial desease and me and my mum developed adult onset?
i know i have the signs and symptoms of umn desease but mitochondrial desease can effect any organ including the brain.
also mitochondrial dysfunction has been linked to parkinsons and many other neurological deseases.

as i said its been on my mind for a few years since reading about it.
i have not said anything to my mum but will wait and see what they say about her hearing.
i have an appointment coming up in a few weeks and think i will just mention about all this.

this is the problem with a pls diagnosis,its purely clinical and no one can be 100% sure untill autopsy.
maybe i do have pls........but this is worth looking into for just in case it could give answers about my brothers death and my mums health.

 

[olly]

hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness. Deafness may also occur.
also found hypotention can be a symptom of lactic acidosis along with sickness ect which is a sign of mitochondrial desease.
funny but developed stomach problems 18mths ago that sound like lactic acidosis.

heres we have some of the symptoms of alpers desease.
found in mitochondrial desease it can effect grey matter,you can have umn symptoms along with hypotonia.
hmmm the plot thickens.

 

[AKmom]

I have never heard of this before. I will have to look it up. Could be Caroline....especially if you have others that have simular problems. Is there a test for it?

 

[olly]

there are specific blood tests and a muscle biopsy to look for ragged red fibres.
i am seriously considering looking into getting these tests done and will ask at my next appointment.

also what occured to me was i had repitory problems some years before pls onset,i saw a cardiologist and had tests done for asthma,they said they thought it was something developing.
while doing research i found that respitory problems before mnd onset could indicate mitochondrial desease.

 

[olly]

oh buggers......gone to modorators

 

[olly]

here is an excellent site.
Facts About Mitochondrial Myopathies

 

[Tokahfang]

Interesting fact: spg7 HSP is caused by improperly blueprinted mitochondria, leading to both muscle problems as well as the standard UMND paraplegia of HSP. They don't scrub what they should, leading to muscle breakdown and painful movements long before the neurological damage catches up.

So, especially if you haven't been gene tested for the HSP spectrum, it is also possible that you like me have what seems to be a mitchondrial PLS.

 

[olly]

hi beky,i did read something about the spastin gene and mitochondrial desease.
i may of course be wrong but there does seem to be a pattern of somekind or connection.
i had genetic testing but sometimes they dont find anything,especially if its just a general test plus never had muscle biopsy.
its just been slowly niggling away in the back of my mind.
i have an appointment in a few weeks and i am going to ask about it and getting the blood tests and maybe biopsy done.
my diagnosis is not really wrong,i do have clinical signs of umn desease but maybe mitochondrial desease is the cause of this.

 

[olly]

by the way beky ,eye problems and blindness is a mitochondrial symptom.

 

[Alyoop]

Olly , the reason I had the muscle biopsies was to test for possible mitochondrial disease. It was on the differential diagnosis list. There is a possibility you may have it if they have not tested for it. It effects people in a variety of different ways I believe. The question is. Is there a cure and if not then what would I gain at the moment from being tested? I believe there is no cure. But thats only from the depp reaches in my brain and could be way off. I have epilepsy and I still wonder if its connected in some way?

 

[olly]

aly,you are right there is no cure..........congenital form is the most severe and is fatal within the first few years of life,when it effects the brain it is degenerative.
i really think it would be very valuable to know not just for me but for my mum,help to explain my brothers death.
it would help to explain other health issues now and in the future.
the more i read and think about it the more i see a connection.........lactic acidosis is a condition seen in mitochondrial desease with certain symptoms,i can see my mum and me have some of them including my hypotention and occasional arrythmia.
there is also my son to consider and his future health issues.
yes i still have umn desease but this could explain the cause.......and besides it will just keep bugging me if i dont get it checked out.
i had tons and tons of blood work done but dont know if any of it was to check for this,i dont think so because i read that you need to fast for 24hrs also never had a muscle biopsy.