Re: Amyotonia Congenita (Oppenheims disease)

[Guest guest]

I don't know much, but I was misdiagnosed as s child in the '60's as having

Amyotonia Congenita. Actually, I have SMA type 1. This leads me to believe

they look similar in children. One thing that is generally true is that the

later the onset, the less severe.

Keep us posted!

Blessings, Ellyn

>

> Hi. I am new to this group. I recently discovered my father who died of

chronic obstructive airways disease a few years ago was diagnosed with Amyotonia

Congenita (Oppenheims disease) when he was a toddler in 1944 in London, UK. He

also had a brother with the same disease who got pneumonia and died aged three,

and another who had the same but is still alive, and a fourth who was not

affected which makes me think it was genetic. I am just wondering if any one has

come across these terms before and for what diseases it was used for (they are

obsolete terms). I am in the process of arranging genetic marker testing with a

neurologist - does anyone know if carrier testing would also show if I may be

affected by the disease in the case of sma, I am beginning to have concerns I

could have/get adult onset but the neurologist said my strength test were

normal, with no fasciculations though I often feel weak with use and generally

tired, and with insidious onset how would I notice? Does anyone have experience

of adult onset and family history of the disease? Many thanks for any advise,

this is something constantly on my mind now. Nick.

>

[Guest guest]

Exactly the same thing happened in my case. I was also misdiagnosed with it.

________________________________

From: " ellynpeace@... " <ellynpeace@...>

Sent: Thursday, March 1, 2012 12:37 PM

Subject: Re: Amyotonia Congenita (Oppenheims disease)

 

I don't know much, but I was misdiagnosed as s child in the '60's as having

Amyotonia Congenita. Actually, I have SMA type 1. This leads me to believe

they look similar in children. One thing that is generally true is that the

later the onset, the less severe.

Keep us posted!

Blessings, Ellyn

>

> Hi. I am new to this group. I recently discovered my father who died of

chronic obstructive airways disease a few years ago was diagnosed with Amyotonia

Congenita (Oppenheims disease) when he was a toddler in 1944 in London, UK. He

also had a brother with the same disease who got pneumonia and died aged three,

and another who had the same but is still alive, and a fourth who was not

affected which makes me think it was genetic. I am just wondering if any one has

come across these terms before and for what diseases it was used for (they are

obsolete terms). I am in the process of arranging genetic marker testing with a

neurologist - does anyone know if carrier testing would also show if I may be

affected by the disease in the case of sma, I am beginning to have concerns I

could have/get adult onset but the neurologist said my strength test were

normal, with no fasciculations though I often feel weak with use and generally

tired, and with insidious onset

how would I notice? Does anyone have experience of adult onset and family

history of the disease? Many thanks for any advise, this is something constantly

on my mind now. Nick.

>

[Guest guest]

Me too.  That must have been the default dx of the day.

 

Lori

________________________________

From: Aul Pedajas <aulpedajas@...>

" " < >

Sent: Thursday, March 1, 2012 1:40 PM

Subject: Re: Re: Amyotonia Congenita (Oppenheims disease)

 

Exactly the same thing happened in my case. I was also misdiagnosed with it.

________________________________

From: " ellynpeace@... " <ellynpeace@...>

Sent: Thursday, March 1, 2012 12:37 PM

Subject: Re: Amyotonia Congenita (Oppenheims disease)

 

I don't know much, but I was misdiagnosed as s child in the '60's as having

Amyotonia Congenita. Actually, I have SMA type 1. This leads me to believe

they look similar in children. One thing that is generally true is that the

later the onset, the less severe.

Keep us posted!

Blessings, Ellyn

>

> Hi. I am new to this group. I recently discovered my father who died of

chronic obstructive airways disease a few years ago was diagnosed with Amyotonia

Congenita (Oppenheims disease) when he was a toddler in 1944 in London, UK. He

also had a brother with the same disease who got pneumonia and died aged three,

and another who had the same but is still alive, and a fourth who was not

affected which makes me think it was genetic. I am just wondering if any one has

come across these terms before and for what diseases it was used for (they are

obsolete terms). I am in the process of arranging genetic marker testing with a

neurologist - does anyone know if carrier testing would also show if I may be

affected by the disease in the case of sma, I am beginning to have concerns I

could have/get adult onset but the neurologist said my strength test were

normal, with no fasciculations though I often feel weak with use and generally

tired, and with insidious onset

how would I notice? Does anyone have experience of adult onset and family

history of the disease? Many thanks for any advise, this is something constantly

on my mind now. Nick.

>

[Guest guest]

Thanks for your replies. I was amazed the fact he had this disease was kept from

me for so long, and reading into sma I believe this is what my dad had as it he

had a lot of the symptoms of type 3 (could not walk until aged 4, almost died of

pneumonia when a child, some spinal curvature, breathing problems throughout

life, very skinny and weak but never needed a wheelchair thankfully). I hope I

find out eventually what he had. Thanks again for your input.

> >

> > Hi. I am new to this group. I recently discovered my father who died of

chronic obstructive airways disease a few years ago was diagnosed with Amyotonia

Congenita (Oppenheims disease) when he was a toddler in 1944 in London, UK. He

also had a brother with the same disease who got pneumonia and died aged three,

and another who had the same but is still alive, and a fourth who was not

affected which makes me think it was genetic. I am just wondering if any one has

come across these terms before and for what diseases it was used for (they are

obsolete terms). I am in the process of arranging genetic marker testing with a

neurologist - does anyone know if carrier testing would also show if I may be

affected by the disease in the case of sma, I am beginning to have concerns I

could have/get adult onset but the neurologist said my strength test were

normal, with no fasciculations though I often feel weak with use and generally

tired, and with insidious onset

> how would I notice? Does anyone have experience of adult onset and family

history of the disease? Many thanks for any advise, this is something constantly

on my mind now. Nick.

> >

>

>