Muscle Biopsy: Please share your experiences!

[diznee25]

Hi everyone,

Years ago I had been diagnosed with an 'unknown' neuromuscular disorder. My symptoms are so severe now that I am on medical leave from my job.

I just had genetic testing done for Myotonic Dystrophy Type 1 and the results came out negative. So my neurologist wants me to have a muscle biopsy and hopefully those results will guide her in a specific direction for continued genetic testing.

Have you ever had a muscle biopsy? If so please share your experience. Plus, what questions should I ask my neurologist about the procedure? I see her in two weeks to discuss this and I want to be prepared!

Thank you so much!

Michelle

 

[brown1442]

My now 6 year old had one done when he was 3. He was nonverbal at the time so I can't tell you much other than he was walking the next day. They did a 1.5 inch incision on the top of his thigh... which really has left minimal scar. I hope you are able to find some answers.

 

[diznee25]

Thanks for sharing! I have posted this question on another board as well and you're the only one who's replied so far. I figured muscle biopsies are common and that many people have had them.

I'm having it done at John Hopkins, so I know I'm in good hands. But I still want to be prepared with questions to ask.....that's just my personality!

diznee25

 

[ckrentz]

my son who is now 4, had one when he was two. He's non verbal, so I don't know how he felt, but he seemed to do fine afterwards. His didn't really give any answers, hope yours does!

 

[kellyw8863]

My daughter had one when she was three. It was a pretty tough experience for her, but it doesn't seem as though that is the norm. I don't know if John Hopkins does fresh or frozen, but one word of advice is to find out first. If it is frozen, ask to have the pathologist in the OR when the muscle is removed. That way, he (or she) can make sure there is enough muscle and that it is handled properly. Good luck!

 

[GranJan]

Have you been tested for CMT or Charcot Marie Tooth? I know it's a strange name but it's named after the doctors who discovered it. I just wondered because I've read some people get muscle biopsies to diagnose it. I've had it since I was a child but wasn't diagnosed until age 50 with genetic testing. Many people go a long time without being diagnosed. Genetic testing is fairly new. In my experience, many doctors are unfamiliar with CMT. It causes muscle weakness in your arms & legs that can be mild but worsens. Mine was very gradual until about age 50, then worsened severely. You can research it at www.cmtausa.org

 

[diznee25]

Have you been tested for CMT or Charcot Marie Tooth? I know it's a strange name but it's named after the doctors who discovered it. I just wondered because I've read some people get muscle biopsies to diagnose it. I've had it since I was a child but wasn't diagnosed until age 50 with genetic testing. Many people go a long time without being diagnosed. Genetic testing is fairly new. In my experience, many doctors are unfamiliar with CMT. It causes muscle weakness in your arms & legs that can be mild but worsens. Mine was very gradual until about age 50, then worsened severely. You can research it at www.cmtausa.org

Interesting you mention CMT, that is one of the things my neurologist suspects. But her first hunch was Muscular Dystrophy, hence the genetic test for Myotonic Dystrophy. I'm actually glad that she wants to do the muscle biopsy, so disorders/diseases can be eliminated and we can get closer to the answer.

Thanks for the link!

Also thanks to everyone else who replied. It's a little nerve racking to go through something like this, even if it's a simple outpatient procedure.

diznee25

 

[miztressuz]

my suggestion is to ask how much muscle is needed and what would the long term effect be.

my hubby is going through a weird muscle problem (everyone is baffled cuz according to the tests he is all normal.... i was actually hoping for them to find a tumor on one, that how frustrated we are) so we saw a neuro that specialized in muscular diseases. a muscle biopsy had been mentioned a few times by other doctors and we were at the point of trying it... until she said that the amount needed for the tests she would do was significant (she said ice cream scoop sized, exact description) so it would involve a bit of recovery. we opted to not do the test, as its not the right fit for now. but i was surprised by how much muscle she said would be needed.

so it would seem that some tests require more tissue than others so you don't want to be surprised.

 

[eternaldisneyfan]

what are your symptoms? There are many kinds of Muscular Dystrophy disorders alone...

It's a minor outpatient procedure with minimal scarring and pain. Hope you get answers.

 

[diznee25]

what are your symptoms? There are many kinds of Muscular Dystrophy disorders alone...

It's a minor outpatient procedure with minimal scarring and pain. Hope you get answers.

Symptoms: Muscle weakness (face, arms and legs), muscle tremors (arms and legs), drop foot, jaw weakness, scoliosis, curved deformed toes,

plus my EMG test came back abnormal, so I have a clinical diagnose of a neuromuscular disorder. It's just figuring out what it is......

These symptoms have gotten progressively worse over the years. Basically I have a hard time with the following:

walking (especially up and down stairs, and must use wheelchair for long distance walking)

have a hard time opening jars, cereal bags, bottles. I can't cut things with knifes because the muscle tremors in my hands are too severe.

I can't pick up and stand/walk with babies that are more than 13 pounds, (I noticed this when I was a nanny.)

My jaw muscles get so tired when I chew food.
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Just an update: The genetic test for Myotonic dystrophy came back negative. But my neurologist is still pretty confident that I have some form of it. She now wants to test for FSH muscular dystrophy. So this will push back the muscle biopsy for a few months.

Thank you for the support!

diznee25

 

[MickeyMirth]

Hi Diznee25

I've been checking this forum everyday to see if you had learned anything. I would never, ever, not even for a skinny minute presume to offer a diagnosis. MD is a pain in the patoot to diagnose because symptoms tend to overlap from one form of MD to another.
That being said, here are my symptoms. Shoulder and upper arm weakness. Can't even raise my arms to the vicinity of my shoulders. I am very round-shouldered and my shoulder blades have an inverted appearance. Getting very difficult to hold my head up. I use a wheelchair all the time but I could do a side step walk if I could stand up.
Foot drop, scoliosis, hand and arm tremors, difficulty opening jars. Sometimes I have trouble swallowing pills. Can't drink out of a cup lid (like a travel mug). Can't whistle. Weak face muscles. Can't really smile (that's probably what ticks me off the most) Can't pick things up onto my lap. I have FSH. I'll be glad to answer any questions you have to the best of my ability.

 

[diznee25]

MickeyMirth: Nice of you to post. I also have some of things you mentioned, I can't whistle, I have the hardest time swallowing pills, and there are times when I drink from a cup some of the liquid dribbles down my clothes, I swear, I don't know how that happens!

During my last visit with my neurologist, she checked my shoulder blades and one does pertrude out more than the other. (I have double curve scoliosis; lumbar curve is 45 (ish) degrees, and my thoracic curve is 54 degrees.

She also noticed that I have neck tremors....I've noticed recently that it takes a lot of muscle strength to hold up my head.....even when I'm watching tv. (Probably because when you stare at the tv, you tend to keep your head in the same position for a long period of time.)

I do have some questions for you, How were you diagnosed with FSH? How many years have you experienced symptoms?

For myself, my symptoms started when I was 12 yo. And then more symptoms appeared, and progressively got worse years later. So about 4 years ago (28 yo) is when my symptoms started interfering with my day-to-day activities.

At the moment I am waiting for a phone call from my neurologist on how she wants to proceed. She does want me to have another EMG, and a muscle biopsy. (My muscle tremors interfered with my last EMG, so she's going to give me something to calm down the tremors for a new EMG test.) And she was thinking about throwing in another genetic test somewhere in the mix. (The test for FSH.)

Look forward to hearing from you! It's nice to meet someone with experience on this topic.

diznee25

 

[MickeyMirth]

Morning Diznee!

Sorry I'm just now replying. Our usual retiree day had some excitement yesterday and I actually had to do something.

Gosh we sound like twins. I had a family history of FSH all on the maternal side. There were hints when I was about 12, couldn't quite raise my arms very high to answer a question in school. Things really got suspect at 14 when I couldn't get contacts d/t scratches on my corneas. My eyelids don't stay tightly shut at night so they get dry and junk gets in them. FSH can creep along so unknowingly you learn to compensate without notice a big difference in your life style. I played basketball all through high school. My shot got lower but no one even noticed. My left leg sort of wanders off to the side, most unladylike and I'm thinking about devising some kind of velcro strap to rein it in.

I think when I started falling during pregnancy my whole family strongly suspected but I never went and got confirmation until I was 30. I had an EMG but never had a biopsy. I did have a blood test, I'll try to remember what it's called and it was positive for FSH. I worked in an ER until I was 43 and then the consensus was it was time to hang up my nursing shoes.

I'm 59 now and the day to day stuff has gotten harder but I manage pretty darn well! I go to an MDA clinic a couple times a year and they are a great information resource. Hang in there. It sounds like you're pretty flexible and able to adapt.

It helps when you get a definitive diagnosis. It's like, "Okay, we got that out of the way. Now what can we do about it?"