muscle biopsy question

[bluebottle]

Hello,

I have been away for a while but was superbly supported by Al and Bobby C while in hospital. I have since been back for a muscle biopsy and I am awaiting the results. A couple of questions
Has anyone else been subjected to a muscle biopsy for a diagnosis?
How long for the results?
What results can come from a muscle biopsy?

Progress - I get voice weakness, I don't know how to describe but if I talk too much (which is quite often!) or after eating a big meal I get a hoarse voice that is weak. I sleep or rest a good while and it comes back to near normal again. Do you think this is significant enough to make contact with my neurologist?

 

[patricia1]

Yes I would,It can be MG or ALS

 

[tmasters]

What can a muscle biopsy rule out?

I'm also very interested in the answer to this question, but would like to phrase it slightly differently.

I'm in the process of being diagnosed. I have the usual LMN symptoms, but no UMN (yet). My neuro suspects ALS. I've had 2 EMGs and bloodwork. Now they're trying an IVIg series. But that's it! I haven't had a muscle biopsy yet; as my doctor said he "already knows what he would find". But since the art of ALS diagnosis is a "rule out" practice, my question is:

What ALS mimic diseases could be ruled out with a muscle biopsy?

I see my neuro again next week and if I can show good cause for a biopsy I will raise the issue again.

-Tom

 

[laurel]

My hubby had a weak voice when he was in the midst of his big CIDP flare up. When he overdoes it, is voice still gets hoarse and weak sounding. And I have read that has been an issue with other CIDP patients. Have you had any positive response to the IVIG? My husband has had dramatic positive response, and showed improvement on day 2 of his first five day series of IVIG.
Laurel

 

[tmasters]

Laurel,

In my case, the doctor suspects ALS but my differential diagnosis is Multifocal Motor Nueropathy (MMN). Supposedly, ALS never responds to IVIg but MMN usually does.

Unfortunately, I've had no positive response (yet). I started IVIg on May 12 and have had 6 infusions so far @ 35g each. I've heard that sometimes it takes longer but I haven't heard any cases with symptomatic improvement that occurred longer than 3 weeks from start of treatment.

Glad to hear your husband is responding well to treatment. :-D

-Tom

 

[Tom S]

Bluebottle -

My biopsy results took 5 days and were definitive. MD said he could "tell by looking" if it was muscle disease or neurological. It was MND. Hope yours is something else.

 

[bluebottle]

Thank you for all the replies. Tom, I am interested in why sometimes it is necessary to do a muscle biopsy. Were your other results inconclusive until the biopsy or did they want to rule out a muscle disorder. Is MND a muscle or nerve disorder? or both?

Laurel, Tom and Patricia- thanks for the throat reply. Does any have throat coming and going depending on tiredness with MND or is this particular to CIPD?

 

[bluebottle]

Info found on the net about muscle biopsy

I don't understand it but it may be of use to others.



MUSCLE BIOPSY.

A muscle specimen can be obtained through either an open or a closed (needle or punch) biopsy procedure. The biopsy should sample a muscle that is moderately weak. Biopsy specimens should generally not be taken from severely weak (MRC grade 2 or less) muscles. Muscles that have recently been studied by needle EMG often have artifacts from the procedure.

The muscle biopsy result can establish whether there is evidence of either a neuropathic or a myopathic disorder. A neuropathy can produce denervation atrophy with small angular fibers, groups of atrophic fibers, and, as a result of reinnervation, groups of fibers of the same histochemical type and target fibers. These features should not be present in a myopathy. Typical myopathic abnormalities include central nuclei, both small and large hypertrophic round fibers, split fibers, and degenerating and regenerating fibers. Inflammatory myopathies produce mononuclear inflammatory cells in the endomysial and perimysial connective tissue between fibers and occasionally around blood vessels. The atrophy of fibers located on the periphery of a muscle fascicle, perifascicular atrophy, is a common finding in a particular inflammatory myopathy, dermatomyositis. Any long-standing chronic myopathy can produce an increase in connective tissue and fat. Mitochondrial disorders are suggested by identification of ragged-red fibers on the Gomori stain and various abnormal staining patterns on the oxidative stains. The enzymatic stains can demonstrate a nonspecific type 1 fiber predominance in a number of myopathies.

Electron microscopy (EM) evaluates ultrastructural components of muscle fibers. In most myopathic disorders EM is not required to make a pathologic diagnosis; findings detected by EM are seldom of importance. However, EM is important in the study of certain disease states with abnormal light microscopic findings: congenital myopathies (e.g., nemaline rod, central core) and mitochondrial disorders.

In the evaluation of metabolic and mitochondrial myopathies, a portion of the muscle tissue can be processed for biochemical analysis to determine the specific enzyme defect. Western blot determinations from muscle tissue can be performed for certain muscle proteins (e.g., dystrophin).

 

[MtPockets]

My muscle biopsy was from the upper thigh muscle. It took about 14 days to get the final results. My Neurologist told me they ran the tests twice at two different labs before she would give me the results.

This was my last medical test before conclusive Dx of ALS.

She said from the biopsy results she knew it was definitely ALS. I do not know how she knew, but somehow it ruled out everything else. Plus I had all the other tests before this was done. It took about 18 months from first beginning testing to the final Dx. Also by that time I had lost all use of my legs and was in the wheel chair full time.

Maybe my symptoms were more advanced than others?

 

[lovelily]

I have had 2 muscle biopsies...One was in the quadricepts which showed 'denervation' the other was in the upper arm and that revealed 'myopathy.' I still do not have any diagnoses.

take care
lovelily

 

[sad_for_aunt]

hi. i am sorry you are sick.........first of all, my aunt is a nurse at mass general hospital, she had a muscle biposy today,she was told it would take four weeks to get results.......

 

[bluebottle]

Hello sad for aunt and welcome. What is your Aunt being tested for?
I was also told four weeks for the results so waiting patiently.

 

[jskierz]

I had a muscle biopsy on my left thigh (the leg that was not as affected with muscle weakness) and it showed definited signs of disease. I had the results within five days. If it were me I would be asking why the long time inbetween test and results.

While the doctors still have not absolutely said this is what you have, I am being treated in the ALS Clinic and my symptoms and mobility is rapidly decreasing. January I could walk, February with a cane, March with a walker/motor scooter, April - emergency neuro consult and immediate admit to hospital with a multitude of tests. I cannot walk now and my neuro said last Wed it is progressing really fast. It sucks - am only 53. I haave been off work for three months when my short term disability ran out. Still trying to get things sorted with Handibus/ramp for house/ changes to washrooms and workstation at work.

I hope that you get results sooner to hopefully rule this nasty disease out as a diagnosis. :neutral:

 

[bluebottle]

jskierz,

I am interested as I am in a waiting position - what other tests did you have and what were the results? It is just that many people have ALS diagnosis without the muscle biopsy. I am gleaning that the biopsy is a last resort when the other tests are not clear. What results did you get from EMG/NCS? What about your blood results?

Also how do you fell about having no definative dignosis - being in this void is hard for me as I never know what to say when people ask, well whats wrong with you?