Non ALS/MND symptoms - misdiagnosis?

[Caroline32]

Hi everyone,

I'm new to the forum but have some questions that some of you may be able to answer for me. My father is 64 years old was diagnosed in May last year with MND. He has deteriorated very quickly and since his initial diagnosis has not heard from his neurologist at all. To date he has relied on my mother and part time carer with a once a month visit from the family doctor and occupational therapist.

After doing some research I have found that a lot of his symptoms are not typical of MND sufferers.

:-?1. Did any of you (or your loved ones with MND) have a muscle biopsy to rule out Polymyositis? Since doing reading about MND I also learnt a about polymyostis which can masquerade itself as MND and sometimes cause a misdiagnosis. I understand the only way to 100% rule it out is by having a muscle biopsy. My father did not have this procedure done. Don't get me wrong, I'm not clutching at straws or giving myself false hope, but just feel it is something else I need to raise with the neurologist, I want him to explain to me how he ruled out polylmyostis if a muscle biopsy wasn't performed.

I meet with him next week so look forward to asking him the following 4 questions:

1) how was Polymyositis fully ruled out if a muscle biopsy was not performed?

2) What is causing my Dad's eye and eyelid muscles to be so weak if it is not MND related, and if it is MG (Myasthenia gravis), how unusual is it that my father would suffer from both MND and MG when they are both relatively rare?

3) Is it unusual that my father has lost almost all control of his bowels when supposedly the muscles involved in bowel activity should also not be affected with MND?

4) Why is my father in a lot of pain (shoulders and other joints mostly) when the neurologist originally told me that MND was not a painful disease…?

If anyone has any comments or suggestions on what to expect from a neurologist and their level of care post-diagnosis, or have any experience with these non-MND symptoms I would be very interested in hearing them.

Thanks
A concerned daughter
Caroline

 

[Annie's Phil]

Hi Caroline,

Welcome to the forum, though I'm very sorry your father is ill. I can't address all your questions, but regarding bowel control, it most definitely can be affected by MND. This was the case with my wife.

I think what is meant by MND not being painful is that it is not typically the direct source of pain, i.e., nerve pain. But many, if not a majority, of MND patients experience pain as a consequence of the disease. Those with upper motor neuron involvement often have spasticity, which is very painful. Lack of motion in the joints is a common cause of joint pain. Frozen shoulder (adhesive capsulitis) is extremely common and very painful. Range of motion exercises are important for this reason. The shoulder is particularly vulnerable because the muscles not only articulate the joint, but also hold it together. As the muscles atrophy, the joint gets very loose and is easily strained, subluxed, and even dislocated. Imbalances that MND causes to develop between extensor and flexor muscles is also a common cause of joint pain.

It isn't always possible , but I would try to get a neurologist that specializes in ALS/MND. They are more likely to be aware of some of the less typical effects than those that only see the occasional ALS/MND patient.

 

[Caroline32]

Thank you Annie's Phil for your speedy reply. Your advice has been very helpful. And I am so sorry for loss. Thank you for taking the time to reply to people like myself. It means a lot. Unfortunately my father lives in a remote area of New Zealand and there is only one neurologist in the South Island so we can only go with his opinion and diagnosis - hence the twenty questions!

The most frustrating thing has been the lack of co-ordination with support. Between the physiotherapist, OT, neurologist, family doctor, hospice people and MND adviser it has been one brick wall after another. It's such a shame that in these instances the patient can't be assigned one case worker who over sees all parts of post diagnosis care. I feel it would help the stress levels and suffering of my father and our family tremendously.

Thanks again.

 

[Will]

My PALS did have a muscle biopsy, which unfortunately was negative (the mytosis diagnosis has a little better prognosis!). They did find some atrophy, so the biopsy generally supported the ALS diagnosis. I understand that in the 20th century, biopsy was a routine part of all ALS diagnosis.

 

[fitzroy]

Caroline, I'm pretty certain that the Canterbury District Health Board have more than one Neurologist on staff. Maybe just not specialising in MND. Still, it doesn't excuse the lack of well coordinated care.

 

[Caroline32]

my apologies Fitzroy. You are quite right. I should have put Southland not South Island. Meeting with the neurologist at the end of the month so will have the chance to ask all of the questions we were too shocked and un-knowledgeable to ask when Dad was diagnosed.

 

[notme]

Hi

Did they test for MG? What was the ALS diagnosis based on? Did he get a second opinion? ALS shouldn't cause issues with his eyelids, to my knowledge.

I think I'd ask the doctors to find answers to your questions and a cause for the other issues.

It's a fallacy to say ALS doesn't cause pain. Contractures are painful. Muscle spasms are painful. If he's having severe shoulder pain, it should be treated.

I hope you get some answers.

 

[kiwisally]

Sorry to hear about your dad. Has the MNDA.org.nz field worker been involved with your dad? If not I'd get in contact with them right away. They only have one worker on the S.I. based in Chch I think but they have been most helpful up this way and a great source of information.

 

[Caroline32]

As far as I'm aware the field worker has seen Dad once when he was first diagnosed and things were still relatively 'normal'. She was very helpful in letting him know what was going to happen to his body. However she was the one who mentioned to my mother last week on the phone that eye lid weakness is most definitely not a symptom of ALS/MND. Also Dad has developed a rash like thing around his face and scalp which can be apparently a symptom of Polymyositis. No chance for a 2nd opinion I dont think with getting a neurologist down from Christchurch which I don't know if a realistic request or not?

 

[Polar]

Muscle Biopsy was the last thing they did on me a couple of weeks before confirmed diagnosis. Not sure what they were looking for..