Myopathy

[keane]

In a previous thread, I mentioned recent problems with atrophy and weakness, primarily in the hands and arms. Last week, a visit to the Mayo clinic revealed the presence of a metabolic myopathy resulting from an inherited mitochondrial mutation. Fortunately, they were able to overnight the actual specimans from a previous biopsy, which were reviewed along with a number of abnormal tests.

I was surprised to find that I also had significant respiratory weakness. While this condition is not treatable with medication, the doctor assured me that with dietary changes, I could dramatically slow the progressive weakening of the extremeties, respiratory and swallowing muscles. Fortunately, this defect is recessive, so my children will be spared.

I remember episodes of extreme hypogycemia, muscle pain and rhabdomyalosis as a child, but was always told that they were most likely the result of hepatitis or similar virus because my liver (and kidneys) have significant damage.

Thanks to all those who answered my questions when I joined the group.

 

[planningguy]

Keane,

I read quite a bit about mitochondrial diseases when I underwent genetic testing a few months ago (hearing loss shared with my mother intrigued my neuro). Although there are no guarantees, as you mentioned they are usually manageable with proper diet and other precautions. Although I wish it were a better label, at least you have a name for your experience.

Best of luck as you move forward, and don't be a stranger here. Many could appreciate your insight, and mito disease is something that has been considered for a number fo us at one point or another.

Take care,

Robert

 

[crystalkk]

Keane,

I'm happy to hear that you found out what's going on. It's a shame that the drs. didn't look further when you were a child
and were having problems? Do you know which metobolic myopathy you have?

 

[lydia]

Keane,

My doctor was/is also exploring the possibility of a mito disorder with me. Because I was going away for a few weeks at Christmas we decided to do a trial of a bunch of supplements that would constitute the "treatment" if I was in fact suffering from a mito disorder. After about 8 weeks taking them I have experienced an improvement in some symptoms (the most debilitating: incredible soreness, stiffness, weakness after ordinary activity; primarily in legs but also in arms). He wants me to continue for another 8 weeks, then go off all of them to see what happens OR just have the muscle biopsy. I really don't want to do the biopsy right now because I will obsess on entire process and am so busy at work and can't afford to be distracted.
I would like to hear more about your story, perhaps by pm.

Have to run out, talk later.

Lydia

 

[ktmj]

keane, sounds like a better alternative than why you came here? Hope so - thanks for the update and best wishes on controlling the myopathy.

 

[awieleba]

What kind of diet changes? Just wondering..........

~april

 

[lydia]

Keane, does your metabolic myopathy have a specific name? Also, I am curious about it being described as progressive...I didn't get the sense that many of the mito-disorders I read about could be described as progressive. I just don't remember. Of course, I was reading about very specific examples that matched my experiences. It was more that you could avoid crises by diet, supplements, and pacing one 's activities, but in-between crises you could be relatively normal. My doctor and I talked about how I don't need to run a marathon to provoke a "crisis" since ordinary activity was completely doing me in (perpetual crisis) and that pacing my activities and planned rest would be important to achieving some sort of normalcy (or as in Brenda's terms: the new normal). But he never said progressive....that is much much more scarier. Regardless, if you can take measures to slow progression that is a good sign, especially from an I-don't-have-an-MND perspective. I echo April's question, what sort of diet?

 

[lbeyerl]

Keane,

My last EMG revealaed signs of myopathy and i just had a muscle biopsy that is being evaluated by Duke University to look for mito mutations.

Can you tell us what other tests you had that were abnormal? Bloodwork, emg, etc.