Friedreich's ataxia and cardiomyopathy

[MudPhud20XX]

So it's probably not important to know the mechanism of the cardiomyopathy which is the cause of the death of these patients, can anyone briefly explain what happens?

FA says the repeat disorder (GAA) in gene that encodes frataxin so I'm guessing the accumulation of frataxin leads to cardiomyopathy.

Also, will these patients show broad based gait? If so, is this b/c they are trying to maintain their balance?

Many thanks in advance.

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[Ionian]

You really need to get yourself a book my friend.

GAA repeat in the gene encoding frataxin, depressed frataxin is associated with generalized mitochondrial dysfunction.

All causes of hypertrophic cardiomyopathy are genetic and related to the sarcomeric proteins, either direct dysfunction, or defective energy transfer from mitochondria to sarcomere (make your own connection between that and the frataxin mutation).

There are many possible causes of death, the only one you might be expected to know makes sense, just think about the myofibral disarray of the septum, whats in the septum? Conduction pathways. Is it screwed up too? Yes.

They die most frequently of arrhythmias, A-fib I believe.

 

[Apoplexy__]

You really need to get yourself a book my friend.

A lot of people say this stuff replying to MudPhud's questions, but I honestly appreciate the chance to review, and value his humility asking so much. It's like a pop quiz every time I come on the forums. They say the best way to learn is to explain...

 

[sarah65]

A lot of people say this stuff replying to MudPhud's questions, but I honestly appreciate the chance to review, and value his humility asking so much. It's like a pop quiz every time I come on the forums. They say the best way to learn is to explain...

Seconded. I do the same.

 

[ChessMaster3000]

Seconded. I do the same.

also, I think its vfib. Patients generally dont die of a fib unless accompanied by thromboembolus, and even then, only in case of massive stroke. So vfib or vtach

 

[Ionian]

also, I think its vfib. Patients generally dont die of a fib unless accompanied by thromboembolus, and even then, only in case of massive stroke. So vfib or vtach

Yep my bad the death is v-fib.

The point is the most common complication is arrhythmias, and A-fib with mural thrombus and embolization. V-fib SCD.

 

[Transposony]

The point is I would rather make those silly mistakes here replying to MudPhud's questions than on the real deal.🙂

 

[Transposony]

Also, will these patients show broad based gait? If so, is this b/c they are trying to maintain their balance?

Since these patient's have a combination of sensory and cerebellar ataxia they usually have broad based staggering/lurching gait to try prevent falls.