Re: new here, not yet dx, Neuro says poss Neuromuscular disease,looking for info

[Guest guest]

Shar

Most of what you have listed is seen in mito. The cyclic vomiting,

sizures and autism jumped out at me, but your symptoms sound very

familiar. It is good that you are going to be going to a Neuromuscular

specialist. You could pass your time, until May, obtaining and

organizing all past medical testing and reports and making a list of

questions.

I hope your appointment goes well.

laurie

> Hello everyone,

>

> I hope you all don't mind if I jump in and ask some questions. I feel

> like an " internet message board floozie " , lol! I've been getting

> around. I think this will be long, sorry. Read fast, lol!

>

> My first stop was at an MS message board nearly two years ago. My

> symptoms were, and are very typical of MS. Several doctors suggested

> MS, so I started down that trail. I have a few brain lesions, but they

> aren't big enough, although they are in the right place for MS

> lesions. All other tests for MS have been negative. I read with

> interest that some of you have been through this same thing.

>

> I ended up seeing a Rheumatologist around the same time. I still see

> him every two to three months. He says he feels like I may have a

> connective tissue disease that just hasn't fully presented yet. I have

> had a positive ANA two times, and a high CRP once. He also feels

> though that something more is going on, and has encouraged me to keep

> looking for answers.

>

> Until recently, I have not had much luck with neurologist. If they

> can't see it, it must not exist. Things started to change several

> months ago though, when I developed ptosis (is this a strong indicator

> of NMD?). My latest neuro was about ready to dismiss me as most of the

> others have, until he received a letter from my Opthomologist (she

> tested me for MG, but it was negative). Suddenly, things start

> moving.The neuro called my PCP and they decided I should see a

> neuromuscular disease specialist. So, that will be my next step. My

> appointment isn't until May though.

>

> I started researching some of the NMD's, and so many things are

> strangly familiar to me. I used to have the cyclical vomiting as a

> child. My youngest daughter has gone through it too. I used to get

> migraines, but I think being on the Neurontin has helped that. I was

> born two and a half months early, as was my brother.

>

> I am adopted, but have met my birth parents. My adoptive mother says I

> did not start walking until I was 18 months old. The doctors told her

> I may have had CP. One of my feet turned in when I walked. I took

> special ed classes for gym, they said I had uncorordinated muscles.

>

> I'm not sure if it matters or not, but on my father's side of the

> family I have a half brother with autism, and he is also mentally

> retareded. I have a niece on his side too, who died of epilepsy as a

> teen. A half sister had lazy eye, which I also have. I have IBS, which

> I can control to an extent if I eat a decent diet.

>

> My symptoms now are pain, and weakness, in my legs and upper arms. I

> cannot walk very far without having a lot of pain. I have a vibrating

> sensation, mostly in my legs, but I do get it in my neck. I have

> trouble with my balance also. Anything I do with repetitive motion, or

> exertion brings on more symptoms (I'm almost never completely symptom

> free)

>

> I just finished PT and OT. I have documented weakness from the OT from

> the grip strength machines in both hands...3 standard devations below

> normal. I also have a weak pincher grasp.

>

> Does any of this sound like it could be from a mito disease? My pcp

> wants me to have a muscle biopsy, another LP, and MRI's, but we agreed

> it would be better to have the NMD neuro to order these, and to have

> them done at the teaching hospital where he is located.

>

> I have a lot of questions, but I will stop here. Thank you so much for

> any information you can give me. And I do realize that you all cannot

> diagnose me over the internet, if only it were that easy, LOL!

> I just want your experiences, and knowledge.

>

> Thanks again.

> Shar

>

>

>

>

>

>

>

>

>

>

>

> Medical advice, information, opinions, data and statements contained herein

> are not necessarily those of the list moderators. The author of this e mail

> is entirely responsible for its content. List members are reminded of their

> responsibility to evaluate the content of the postings and consult with

> their physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

> automatically moderated or removed depending on the severity of the attack.

>

>

>

>

>

>

[Guest guest]

>

> Shar

>

> Most of what you have listed is seen in mito. The cyclic vomiting,

> sizures and autism jumped out at me, but your symptoms sound very

> familiar. It is good that you are going to be going to a

Neuromuscular

> specialist. You could pass your time, until May, obtaining and

> organizing all past medical testing and reports and making a list

of

> questions.

>

> I hope your appointment goes well.

>

> laurie

>

Laurie, Thanks for your reply. You're right, I need to spend the

next few months organizing all of my records. At least I will feel

like I'm being proactive with the situation. I'm working on a

symptom journal too.

I have a question about seizures. I can't remember what I wrote in

my original post, so sorry if I'm repeating myself. But, I used to

have these " spells " where I would get real disoriented, sometimes

they would last for several hours. It would scare me. They didn't

happen too often, maybe four or five times a year. Once I started

the Neurontin those spells stopped. It makes me wonder if those

weren't some kind of small seizures. Any ideas?

I have many other symptoms that I didn't list. One that is

distrubing to me is the shortness of breath that I get. It's

especially noticeable when I am talking and/or eating. It doesn't

happen all the time, thankfully.

Thanks again for your input. Oh, sorry everyone for the length of my

first post. I'll try not to be too chatty.

Shar

[Guest guest]

Shar

Your symptoms that ended with Neurotin could have been a migraine type

episode, seizure type episode or reduced cellular energy to the brain.

I'm glad they are gone with the Neurotin.

I have shortness of breath as well. It has improved some when the doc

had me add magnesium orotate to my cocktail - at least I think so. I

still have it and have learned to rest when it happens. When I

continue to push, it gets so bad that I get panicy (not sure there is

such a word or if it is spelled correctly).

laurie

>

> >

> > Shar

> >

> > Most of what you have listed is seen in mito. The cyclic vomiting,

> > sizures and autism jumped out at me, but your symptoms sound very

> > familiar. It is good that you are going to be going to a

> Neuromuscular

> > specialist. You could pass your time, until May, obtaining and

> > organizing all past medical testing and reports and making a list

> of

> > questions.

> >

> > I hope your appointment goes well.

> >

> > laurie

> >

> Laurie, Thanks for your reply. You're right, I need to spend the

> next few months organizing all of my records. At least I will feel

> like I'm being proactive with the situation. I'm working on a

> symptom journal too.

>

> I have a question about seizures. I can't remember what I wrote in

> my original post, so sorry if I'm repeating myself. But, I used to

> have these " spells " where I would get real disoriented, sometimes

> they would last for several hours. It would scare me. They didn't

> happen too often, maybe four or five times a year. Once I started

> the Neurontin those spells stopped. It makes me wonder if those

> weren't some kind of small seizures. Any ideas?

>

> I have many other symptoms that I didn't list. One that is

> distrubing to me is the shortness of breath that I get. It's

> especially noticeable when I am talking and/or eating. It doesn't

> happen all the time, thankfully.

>

> Thanks again for your input. Oh, sorry everyone for the length of my

> first post. I'll try not to be too chatty.

>

> Shar

>

>

>

>

>

>

>

>

>

> Medical advice, information, opinions, data and statements contained herein

> are not necessarily those of the list moderators. The author of this e mail

> is entirely responsible for its content. List members are reminded of their

> responsibility to evaluate the content of the postings and consult with

> their physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

> automatically moderated or removed depending on the severity of the attack.

>

>

>

>

>

>

[Guest guest]

I would also suggest your documenting family history on both sides too

to take with you. This type of stuff and I never remember during an

appointment and it helps if I have it and questions written down in a

notebook.

Laurie Fitzgerald wrote:

>Shar

>

>Most of what you have listed is seen in mito. The cyclic vomiting,

>sizures and autism jumped out at me, but your symptoms sound very

>familiar. It is good that you are going to be going to a Neuromuscular

>specialist. You could pass your time, until May, obtaining and

>organizing all past medical testing and reports and making a list of

>questions.

>

>I hope your appointment goes well.

>

>laurie

>

>

>

>

>> Hello everyone,

>>

>> I hope you all don't mind if I jump in and ask some questions. I feel

>> like an " internet message board floozie " , lol! I've been getting

>> around. I think this will be long, sorry. Read fast, lol!

>>

>> My first stop was at an MS message board nearly two years ago. My

>> symptoms were, and are very typical of MS. Several doctors suggested

>> MS, so I started down that trail. I have a few brain lesions, but they

>> aren't big enough, although they are in the right place for MS

>> lesions. All other tests for MS have been negative. I read with

>> interest that some of you have been through this same thing.

>>

>> I ended up seeing a Rheumatologist around the same time. I still see

>> him every two to three months. He says he feels like I may have a

>> connective tissue disease that just hasn't fully presented yet. I have

>> had a positive ANA two times, and a high CRP once. He also feels

>> though that something more is going on, and has encouraged me to keep

>> looking for answers.

>>

>> Until recently, I have not had much luck with neurologist. If they

>> can't see it, it must not exist. Things started to change several

>> months ago though, when I developed ptosis (is this a strong indicator

>> of NMD?). My latest neuro was about ready to dismiss me as most of the

>> others have, until he received a letter from my Opthomologist (she

>> tested me for MG, but it was negative). Suddenly, things start

>> moving.The neuro called my PCP and they decided I should see a

>> neuromuscular disease specialist. So, that will be my next step. My

>> appointment isn't until May though.

>>

>> I started researching some of the NMD's, and so many things are

>> strangly familiar to me. I used to have the cyclical vomiting as a

>> child. My youngest daughter has gone through it too. I used to get

>> migraines, but I think being on the Neurontin has helped that. I was

>> born two and a half months early, as was my brother.

>>

>> I am adopted, but have met my birth parents. My adoptive mother says I

>> did not start walking until I was 18 months old. The doctors told her

>> I may have had CP. One of my feet turned in when I walked. I took

>> special ed classes for gym, they said I had uncorordinated muscles.

>>

>> I'm not sure if it matters or not, but on my father's side of the

>> family I have a half brother with autism, and he is also mentally

>> retareded. I have a niece on his side too, who died of epilepsy as a

>> teen. A half sister had lazy eye, which I also have. I have IBS, which

>> I can control to an extent if I eat a decent diet.

>>

>> My symptoms now are pain, and weakness, in my legs and upper arms. I

>> cannot walk very far without having a lot of pain. I have a vibrating

>> sensation, mostly in my legs, but I do get it in my neck. I have

>> trouble with my balance also. Anything I do with repetitive motion, or

>> exertion brings on more symptoms (I'm almost never completely symptom

>> free)

>>

>> I just finished PT and OT. I have documented weakness from the OT from

>> the grip strength machines in both hands...3 standard devations below

>> normal. I also have a weak pincher grasp.

>>

>> Does any of this sound like it could be from a mito disease? My pcp

>> wants me to have a muscle biopsy, another LP, and MRI's, but we agreed

>> it would be better to have the NMD neuro to order these, and to have

>> them done at the teaching hospital where he is located.

>>

>> I have a lot of questions, but I will stop here. Thank you so much for

>> any information you can give me. And I do realize that you all cannot

>> diagnose me over the internet, if only it were that easy, LOL!

>> I just want your experiences, and knowledge.

>>

>> Thanks again.

>> Shar

>>

>>

>>

>>

>>

>>

>>

>>

>>

>>

>>

>> Medical advice, information, opinions, data and statements contained herein

>>are not necessarily those of the list moderators. The author of this e mail

>>is entirely responsible for its content. List members are reminded of their

>>responsibility to evaluate the content of the postings and consult with

>>their physicians regarding changes in their own treatment.

>>

>> Personal attacks are not permitted on the list and anyone who sends one is

>>automatically moderated or removed depending on the severity of the attack.

>>

>>

>>

>>

>>

>>

[Guest guest]

>

> I would also suggest your documenting family history on both sides

too

> to take with you. This type of stuff and I never remember during an

> appointment and it helps if I have it and questions written down in

a

> notebook.

>

>

>

> , Thanks for the suggestion. So, can the paternal side of the

family help in the diagnosis of these kinds of diseases? I have read

up on them a bit. I know they can be passed through the maternal line

alone, but do you need to have a gene from both kinds of the family to

have some of these kinds of diseases?

Sorry if I'm not making any sense.

Thanks

[Guest guest]

Certainly sounds like MDA clinic material to me, if not mito, then

another neuromuscular disease. It might be worth the trip to the MDA

clinic. Although I now have a mito dx by fresh muscle biopsy, my MDA

neuro is constantly vigilant for signs of MS and making sure I don't

have that instead/as well.

Take care,

RH

>

> Hello everyone,

>

> I hope you all don't mind if I jump in and ask some questions. I

feel

> like an " internet message board floozie " , lol! I've been getting

> around. I think this will be long, sorry. Read fast, lol!

>

> My first stop was at an MS message board nearly two years ago. My

> symptoms were, and are very typical of MS. Several doctors

suggested

> MS, so I started down that trail. I have a few brain lesions, but

they

> aren't big enough, although they are in the right place for MS

> lesions. All other tests for MS have been negative. I read with

> interest that some of you have been through this same thing.

>

> I ended up seeing a Rheumatologist around the same time. I still

see

> him every two to three months. He says he feels like I may have a

> connective tissue disease that just hasn't fully presented yet. I

have

> had a positive ANA two times, and a high CRP once. He also feels

> though that something more is going on, and has encouraged me to

keep

> looking for answers.

>

> Until recently, I have not had much luck with neurologist. If they

> can't see it, it must not exist. Things started to change several

> months ago though, when I developed ptosis (is this a strong

indicator

> of NMD?). My latest neuro was about ready to dismiss me as most of

the

> others have, until he received a letter from my Opthomologist (she

> tested me for MG, but it was negative). Suddenly, things start

> moving.The neuro called my PCP and they decided I should see a

> neuromuscular disease specialist. So, that will be my next step. My

> appointment isn't until May though.

>

> I started researching some of the NMD's, and so many things are

> strangly familiar to me. I used to have the cyclical vomiting as a

> child. My youngest daughter has gone through it too. I used to get

> migraines, but I think being on the Neurontin has helped that. I

was

> born two and a half months early, as was my brother.

>

> I am adopted, but have met my birth parents. My adoptive mother

says I

> did not start walking until I was 18 months old. The doctors told

her

> I may have had CP. One of my feet turned in when I walked. I took

> special ed classes for gym, they said I had uncorordinated muscles.

>

> I'm not sure if it matters or not, but on my father's side of the

> family I have a half brother with autism, and he is also mentally

> retareded. I have a niece on his side too, who died of epilepsy as

a

> teen. A half sister had lazy eye, which I also have. I have IBS,

which

> I can control to an extent if I eat a decent diet.

>

> My symptoms now are pain, and weakness, in my legs and upper arms.

I

> cannot walk very far without having a lot of pain. I have a

vibrating

> sensation, mostly in my legs, but I do get it in my neck. I have

> trouble with my balance also. Anything I do with repetitive motion,

or

> exertion brings on more symptoms (I'm almost never completely

symptom

> free)

>

> I just finished PT and OT. I have documented weakness from the OT

from

> the grip strength machines in both hands...3 standard devations

below

> normal. I also have a weak pincher grasp.

>

> Does any of this sound like it could be from a mito disease? My pcp

> wants me to have a muscle biopsy, another LP, and MRI's, but we

agreed

> it would be better to have the NMD neuro to order these, and to

have

> them done at the teaching hospital where he is located.

>

> I have a lot of questions, but I will stop here. Thank you so much

for

> any information you can give me. And I do realize that you all

cannot

> diagnose me over the internet, if only it were that easy, LOL!

> I just want your experiences, and knowledge.

>

> Thanks again.

> Shar

>

[Guest guest]

Sounds like absence or petit mal seizures. Any kind of consciousness

altering (unless it's due to recreational drugs or alcohol LOL)

should be reported to a doctor - the risk is having your license

taken away, but that might be a good idea if the " spells " are

frequent.

Take care,

RH

> >

> > Shar

> >

> > Most of what you have listed is seen in mito. The cyclic vomiting,

> > sizures and autism jumped out at me, but your symptoms sound very

> > familiar. It is good that you are going to be going to a

> Neuromuscular

> > specialist. You could pass your time, until May, obtaining and

> > organizing all past medical testing and reports and making a list

> of

> > questions.

> >

> > I hope your appointment goes well.

> >

> > laurie

> >

> Laurie, Thanks for your reply. You're right, I need to spend the

> next few months organizing all of my records. At least I will feel

> like I'm being proactive with the situation. I'm working on a

> symptom journal too.

>

> I have a question about seizures. I can't remember what I wrote in

> my original post, so sorry if I'm repeating myself. But, I used to

> have these " spells " where I would get real disoriented, sometimes

> they would last for several hours. It would scare me. They didn't

> happen too often, maybe four or five times a year. Once I started

> the Neurontin those spells stopped. It makes me wonder if those

> weren't some kind of small seizures. Any ideas?

>

> I have many other symptoms that I didn't list. One that is

> distrubing to me is the shortness of breath that I get. It's

> especially noticeable when I am talking and/or eating. It doesn't

> happen all the time, thankfully.

>

> Thanks again for your input. Oh, sorry everyone for the length of

my

> first post. I'll try not to be too chatty.

>

> Shar

>

[Guest guest]

Shar

The genetics of mito is very complex and not completely like the

genetics of most other things. There is DNA in the mitochondria that

is only transmitted by the mother, but more often it is a problem in

the nuclear DNA which is how other things are transmitted - good and

bad alike. Within the nuclear DNA transmission, some disease can be

mother only like in Duchanne muscular dystrophy - mothers are carriers

and son's get it. Then there are other things that require a defect

from both parents and others that can be mother or father if the

disorder is by a dominent gene that over-rides the matching gene from

the other parent. There are still other variations, but this certainly

is enough to see that finding the defect and transmission pattern is

very difficult.

So the short answer is that any kind of transmission is possible, so

the history of both parents is important.

laurie

>

> >

> > I would also suggest your documenting family history on both sides

> too

> > to take with you. This type of stuff and I never remember during an

> > appointment and it helps if I have it and questions written down in

> a

> > notebook.

> >

> >

> >

> > , Thanks for the suggestion. So, can the paternal side of the

> family help in the diagnosis of these kinds of diseases? I have read

> up on them a bit. I know they can be passed through the maternal line

> alone, but do you need to have a gene from both kinds of the family to

> have some of these kinds of diseases?

>

> Sorry if I'm not making any sense.

>

> Thanks

>

>

>

>

>

>

> Medical advice, information, opinions, data and statements contained herein

> are not necessarily those of the list moderators. The author of this e mail

> is entirely responsible for its content. List members are reminded of their

> responsibility to evaluate the content of the postings and consult with

> their physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

> automatically moderated or removed depending on the severity of the attack.

>

>

>

>

>

>

[Guest guest]

Shalynn,

Both sides of a family definitely should be studied! And you're right, the

Mitochondria are only passed on from the female, BUT... if the genetic error

isn't in the mitochondria, but rather in the Nucleus of the cell, then either/or

both the male or female can pass on the mitochondrial myopathies. Our family

has an autosomal dominant disorder, which means the defect is not passed on from

a sex chromosome, and that it only needs one parent to pass it on. And, because

the error is in the nucleus, both male and female siblings who are affected can

pass on these disorders. Most commonly, the genetic defect is in the

mitochondria, and in those cases, then only the female will pass the disorders

on to her offspring.

I hope this makes a little bit of sense to you, I know it confused me for a long

time, as I thought that mito was only passed on by the female in the family,

too.

Take care,

Cin

Re: new here, not yet dx, Neuro says poss Neuromuscular

disease,looking for info

>

> I would also suggest your documenting family history on both sides

too

> to take with you. This type of stuff and I never remember during an

> appointment and it helps if I have it and questions written down in

a

> notebook.

>

>

>

> , Thanks for the suggestion. So, can the paternal side of the

family help in the diagnosis of these kinds of diseases? I have read

up on them a bit. I know they can be passed through the maternal line

alone, but do you need to have a gene from both kinds of the family to

have some of these kinds of diseases?

Sorry if I'm not making any sense.

Thanks

Medical advice, information, opinions, data and statements contained herein are

not necessarily those of the list moderators. The author of this e mail is

entirely responsible for its content. List members are reminded of their

responsibility to evaluate the content of the postings and consult with their

physicians regarding changes in their own treatment.

Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

[Guest guest]

Shar--

just read most of your post--I need to get off here and go to bed as my legs are

actually shaking and my back is killing me for being on the computer too long.

My sister was diagnosed with melas a form of mitochondrial disease in 1996. My

mother was on epeleptic medicine since 1979 and died in 1988 from an epileptic

seizure. My sister had her first known seizure in 1994. My sister had two

premature babies--one died, other lived with help from the flight for life

helicopter. I myself was premature and had an older brother born dead. My

mothers side of the family alot of strange early deaths and premature and dead

births.

My brothers feet both turn inward also very much so that he cannot ski as the

tips of his skis cross and stop him. My feet turn in also, the sides of my

shoes wear out but not as bad.

I was told in 1997 by son docs at the medical college of wisconsin that I have

" classic " melas damage to the nerves in my eyes.

Also have alot of other symptoms that others have--constipation problem,

fatique, my blood sugar goes up with physical exercise. My 13 yr old son has

the fatique and dismobiltiy when eating.

After diagnosis alot of stuff that happened when a child that seemed unrelated

suddenly fit together and make sense.

But remember that mito affects each person differently and can be different each

day. And even in the same family with the same disease it affects differently

although there are some similiarities.

Janet Sample

new here, not yet dx, Neuro says poss Neuromuscular

disease,looking for info

Hello everyone,

I hope you all don't mind if I jump in and ask some questions. I feel

like an " internet message board floozie " , lol! I've been getting

around. I think this will be long, sorry. Read fast, lol!

My first stop was at an MS message board nearly two years ago. My

symptoms were, and are very typical of MS. Several doctors suggested

MS, so I started down that trail. I have a few brain lesions, but they

aren't big enough, although they are in the right place for MS

lesions. All other tests for MS have been negative. I read with

interest that some of you have been through this same thing.

I ended up seeing a Rheumatologist around the same time. I still see

him every two to three months. He says he feels like I may have a

connective tissue disease that just hasn't fully presented yet. I have

had a positive ANA two times, and a high CRP once. He also feels

though that something more is going on, and has encouraged me to keep

looking for answers.

Until recently, I have not had much luck with neurologist. If they

can't see it, it must not exist. Things started to change several

months ago though, when I developed ptosis (is this a strong indicator

of NMD?). My latest neuro was about ready to dismiss me as most of the

others have, until he received a letter from my Opthomologist (she

tested me for MG, but it was negative). Suddenly, things start

moving.The neuro called my PCP and they decided I should see a

neuromuscular disease specialist. So, that will be my next step. My

appointment isn't until May though.

I started researching some of the NMD's, and so many things are

strangly familiar to me. I used to have the cyclical vomiting as a

child. My youngest daughter has gone through it too. I used to get

migraines, but I think being on the Neurontin has helped that. I was

born two and a half months early, as was my brother.

I am adopted, but have met my birth parents. My adoptive mother says I

did not start walking until I was 18 months old. The doctors told her

I may have had CP. One of my feet turned in when I walked. I took

special ed classes for gym, they said I had uncorordinated muscles.

I'm not sure if it matters or not, but on my father's side of the

family I have a half brother with autism, and he is also mentally

retareded. I have a niece on his side too, who died of epilepsy as a

teen. A half sister had lazy eye, which I also have. I have IBS, which

I can control to an extent if I eat a decent diet.

My symptoms now are pain, and weakness, in my legs and upper arms. I

cannot walk very far without having a lot of pain. I have a vibrating

sensation, mostly in my legs, but I do get it in my neck. I have

trouble with my balance also. Anything I do with repetitive motion, or

exertion brings on more symptoms (I'm almost never completely symptom

free)

I just finished PT and OT. I have documented weakness from the OT from

the grip strength machines in both hands...3 standard devations below

normal. I also have a weak pincher grasp.

Does any of this sound like it could be from a mito disease? My pcp

wants me to have a muscle biopsy, another LP, and MRI's, but we agreed

it would be better to have the NMD neuro to order these, and to have

them done at the teaching hospital where he is located.

I have a lot of questions, but I will stop here. Thank you so much for

any information you can give me. And I do realize that you all cannot

diagnose me over the internet, if only it were that easy, LOL!

I just want your experiences, and knowledge.

Thanks again.

Shar

Medical advice, information, opinions, data and statements contained herein

are not necessarily those of the list moderators. The author of this e mail is

entirely responsible for its content. List members are reminded of their

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[Guest guest]

Thanks Sis for answering for me.

Laurie Fitzgerald wrote:

>Shar

>

>The genetics of mito is very complex and not completely like the

>genetics of most other things. There is DNA in the mitochondria that

>is only transmitted by the mother, but more often it is a problem in

>the nuclear DNA which is how other things are transmitted - good and

>bad alike. Within the nuclear DNA transmission, some disease can be

>mother only like in Duchanne muscular dystrophy - mothers are carriers

>and son's get it. Then there are other things that require a defect

>from both parents and others that can be mother or father if the

>disorder is by a dominent gene that over-rides the matching gene from

>the other parent. There are still other variations, but this certainly

>is enough to see that finding the defect and transmission pattern is

>very difficult.

>

>So the short answer is that any kind of transmission is possible, so

>the history of both parents is important.

>

>laurie

>

>

>

>

>>

>> >

>> > I would also suggest your documenting family history on both sides

>> too

>> > to take with you. This type of stuff and I never remember during an

>> > appointment and it helps if I have it and questions written down in

>> a

>> > notebook.

>> >

>> >

>> >

>> > , Thanks for the suggestion. So, can the paternal side of the

>> family help in the diagnosis of these kinds of diseases? I have read

>> up on them a bit. I know they can be passed through the maternal line

>> alone, but do you need to have a gene from both kinds of the family to

>> have some of these kinds of diseases?

>>

>> Sorry if I'm not making any sense.

>>

>> Thanks

>>

>>

>>

>>

>>

>>

>> Medical advice, information, opinions, data and statements contained herein

>>are not necessarily those of the list moderators. The author of this e mail

>>is entirely responsible for its content. List members are reminded of their

>>responsibility to evaluate the content of the postings and consult with

>>their physicians regarding changes in their own treatment.

>>

>> Personal attacks are not permitted on the list and anyone who sends one is

>>automatically moderated or removed depending on the severity of the attack.

>>

>>

>>

>>

>>

>>

[Guest guest]

> > >

> > > I would also suggest your documenting family history on both

sides

> > too

> > > to take with you. This type of stuff and I never remember

during an

> > > appointment and it helps if I have it and questions written

down in

> > a

> > > notebook.

> > >

> > >

> > >

> > > , Thanks for the suggestion. So, can the paternal side

of the

> > family help in the diagnosis of these kinds of diseases? I have

read

> > up on them a bit. I know they can be passed through the

maternal line

> > alone, but do you need to have a gene from both kinds of the

family to

> > have some of these kinds of diseases?

> >

> > Sorry if I'm not making any sense.

> >

> > Thanks

> >

> >

> >

> >

> >

> >

> > Medical advice, information, opinions, data and statements

contained herein

> > are not necessarily those of the list moderators. The author of

this e mail

> > is entirely responsible for its content. List members are

reminded of their

> > responsibility to evaluate the content of the postings and

consult with

> > their physicians regarding changes in their own treatment.

> >

> > Personal attacks are not permitted on the list and anyone who

sends one is

> > automatically moderated or removed depending on the severity of

the attack.

> >

> >

> >

> >

> >

> >

[Guest guest]

> >

> > I would also suggest your documenting family history on both

sides

> too

> > to take with you. This type of stuff and I never remember

during an

> > appointment and it helps if I have it and questions written down

in

> a

> > notebook.

> >

> >

> >

> > , Thanks for the suggestion. So, can the paternal side of

the

> family help in the diagnosis of these kinds of diseases? I have

read

> up on them a bit. I know they can be passed through the maternal

line

> alone, but do you need to have a gene from both kinds of the

family to

> have some of these kinds of diseases?

>

> Sorry if I'm not making any sense.

>

> Thanks

>

>

>

>

>

> Medical advice, information, opinions, data and statements

contained herein are not necessarily those of the list moderators.

The author of this e mail is entirely responsible for its content.

List members are reminded of their responsibility to evaluate the

content of the postings and consult with their physicians regarding

changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who

sends one is automatically moderated or removed depending on the

severity of the attack.

>

>

[Guest guest]

>

> Shar--

>

> just read most of your post--I need to get off here and go to bed

as my legs are actually shaking and my back is killing me for being

on the computer too long.

>

> My sister was diagnosed with melas a form of mitochondrial disease

in 1996. My mother was on epeleptic medicine since 1979 and died in

1988 from an epileptic seizure. My sister had her first known

seizure in 1994. My sister had two premature babies--one died,

other lived with help from the flight for life helicopter. I myself

was premature and had an older brother born dead. My mothers side

of the family alot of strange early deaths and premature and dead

births.

>

> My brothers feet both turn inward also very much so that he cannot

ski as the tips of his skis cross and stop him. My feet turn in

also, the sides of my shoes wear out but not as bad.

>

> I was told in 1997 by son docs at the medical college of wisconsin

that I have " classic " melas damage to the nerves in my eyes.

>

> Also have alot of other symptoms that others have--constipation

problem, fatique, my blood sugar goes up with physical exercise. My

13 yr old son has the fatique and dismobiltiy when eating.

>

> After diagnosis alot of stuff that happened when a child that

seemed unrelated suddenly fit together and make sense.

>

> But remember that mito affects each person differently and can be

different each day. And even in the same family with the same

disease it affects differently although there are some similiarities.

>

> Janet Sample

> new here, not yet dx, Neuro says poss

Neuromuscular disease,looking for info

>

>

> Hello everyone,

>

> I hope you all don't mind if I jump in and ask some questions. I

feel

> like an " internet message board floozie " , lol! I've been getting

> around. I think this will be long, sorry. Read fast, lol!

>

> My first stop was at an MS message board nearly two years ago.

My

> symptoms were, and are very typical of MS. Several doctors

suggested

> MS, so I started down that trail. I have a few brain lesions,

but they

> aren't big enough, although they are in the right place for MS

> lesions. All other tests for MS have been negative. I read with

> interest that some of you have been through this same thing.

>

> I ended up seeing a Rheumatologist around the same time. I still

see

> him every two to three months. He says he feels like I may have

a

> connective tissue disease that just hasn't fully presented yet.

I have

> had a positive ANA two times, and a high CRP once. He also feels

> though that something more is going on, and has encouraged me to

keep

> looking for answers.

>

> Until recently, I have not had much luck with neurologist. If

they

> can't see it, it must not exist. Things started to change

several

> months ago though, when I developed ptosis (is this a strong

indicator

> of NMD?). My latest neuro was about ready to dismiss me as most

of the

> others have, until he received a letter from my Opthomologist

(she

> tested me for MG, but it was negative). Suddenly, things start

> moving.The neuro called my PCP and they decided I should see a

> neuromuscular disease specialist. So, that will be my next step.

My

> appointment isn't until May though.

>

> I started researching some of the NMD's, and so many things are

> strangly familiar to me. I used to have the cyclical vomiting as

a

> child. My youngest daughter has gone through it too. I used to

get

> migraines, but I think being on the Neurontin has helped that. I

was

> born two and a half months early, as was my brother.

>

> I am adopted, but have met my birth parents. My adoptive mother

says I

> did not start walking until I was 18 months old. The doctors

told her

> I may have had CP. One of my feet turned in when I walked. I

took

> special ed classes for gym, they said I had uncorordinated

muscles.

>

> I'm not sure if it matters or not, but on my father's side of

the

> family I have a half brother with autism, and he is also

mentally

> retareded. I have a niece on his side too, who died of epilepsy

as a

> teen. A half sister had lazy eye, which I also have. I have IBS,

which

> I can control to an extent if I eat a decent diet.

>

> My symptoms now are pain, and weakness, in my legs and upper

arms. I

> cannot walk very far without having a lot of pain. I have a

vibrating

> sensation, mostly in my legs, but I do get it in my neck. I have

> trouble with my balance also. Anything I do with repetitive

motion, or

> exertion brings on more symptoms (I'm almost never completely

symptom

> free)

>

> I just finished PT and OT. I have documented weakness from the

OT from

> the grip strength machines in both hands...3 standard devations

below

> normal. I also have a weak pincher grasp.

>

> Does any of this sound like it could be from a mito disease? My

pcp

> wants me to have a muscle biopsy, another LP, and MRI's, but we

agreed

> it would be better to have the NMD neuro to order these, and to

have

> them done at the teaching hospital where he is located.

>

> I have a lot of questions, but I will stop here. Thank you so

much for

> any information you can give me. And I do realize that you all

cannot

> diagnose me over the internet, if only it were that easy, LOL!

> I just want your experiences, and knowledge.

>

> Thanks again.

> Shar

>

>

>

>

>

>

>

>

>

>

>

> Medical advice, information, opinions, data and statements

contained herein are not necessarily those of the list moderators.

The author of this e mail is entirely responsible for its content.

List members are reminded of their responsibility to evaluate the

content of the postings and consult with their physicians regarding

changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who

sends one is automatically moderated or removed depending on the

severity of the attack.

>

>

>

>

>

[Guest guest]

Shar

Yes, a nuclear DNA defect can also be a mitochondrial disorder. There

are a great many genes in the nDNA that control how the fuel enters

the mitochondria among other things. It is more complex than I can

completely understand as far as what the total process is. I wish I

had had some biochemistry as part of my science minor in college.

laurie

>

> > > >

> > > > I would also suggest your documenting family history on both

> sides

> > > too

> > > > to take with you. This type of stuff and I never remember

> during an

> > > > appointment and it helps if I have it and questions written

> down in

> > > a

> > > > notebook.

> > > >

> > > >

> > > >

> > > > , Thanks for the suggestion. So, can the paternal side

> of the

> > > family help in the diagnosis of these kinds of diseases? I have

> read

> > > up on them a bit. I know they can be passed through the

> maternal line

> > > alone, but do you need to have a gene from both kinds of the

> family to

> > > have some of these kinds of diseases?

> > >

> > > Sorry if I'm not making any sense.

> > >

> > > Thanks

> > >

> > >

> > >

> > >

> > >

> > >

> > > Medical advice, information, opinions, data and statements

> contained herein

> > > are not necessarily those of the list moderators. The author of

> this e mail

> > > is entirely responsible for its content. List members are

> reminded of their

> > > responsibility to evaluate the content of the postings and

> consult with

> > > their physicians regarding changes in their own treatment.

> > >

> > > Personal attacks are not permitted on the list and anyone who

> sends one is

> > > automatically moderated or removed depending on the severity of

> the attack.

> > >

> > >

> > >

> > >

> > >

> > >

[Guest guest]

Yes - it's like the blueprints for the mitochondria are in two

places - the mitochondria itself and the cell nucleus. I have

mitochondrial disease, mitochondrial encephalomyopathy, Complex I

defect, and it is a nDNA defect (mtDNA has been ruled out). So

my " mtDNA " " blueprints " seem to be okay, but my " nDNA " blueprints for

the mitochondrial proteins are messed up. They code for different

things in the mitochondria (does anyone have a brief summary as to

what they do code for?).

Take care,

RH

> > > >

> > > > I would also suggest your documenting family history on both

> sides

> > > too

> > > > to take with you. This type of stuff and I never remember

> during an

> > > > appointment and it helps if I have it and questions written

> down in

> > > a

> > > > notebook.

> > > >

> > > >

> > > >

> > > > , Thanks for the suggestion. So, can the paternal side

> of the

> > > family help in the diagnosis of these kinds of diseases? I

have

> read

> > > up on them a bit. I know they can be passed through the

> maternal line

> > > alone, but do you need to have a gene from both kinds of the

> family to

> > > have some of these kinds of diseases?

> > >

> > > Sorry if I'm not making any sense.

> > >

> > > Thanks

> > >

> > >

> > >

> > >

> > >

> > >

> > > Medical advice, information, opinions, data and statements

> contained herein

> > > are not necessarily those of the list moderators. The author of

> this e mail

> > > is entirely responsible for its content. List members are

> reminded of their

> > > responsibility to evaluate the content of the postings and

> consult with

> > > their physicians regarding changes in their own treatment.

> > >

> > > Personal attacks are not permitted on the list and anyone who

> sends one is

> > > automatically moderated or removed depending on the severity of

> the attack.

> > >

> > >

> > >

> > >

> > >

> > >