Amyotonia Congenita (Oppenheims disease)

[Guest guest]

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.