ALS Diagnosis - But Noone has seen these symptoms?

[Looking4Help]

I am writing this post in hopes of finding someone with similar symptoms to mine and some idea of what might be happening to me. I have been diagnosed with ALS even though some of my symptoms do not fit the disease. I have seen three top ALS doctors who have said they have never seen symptoms like mine and can’t quite explain it.

In August, 2009 I experienced dropped foot , at the same time I had a numbness in my left thigh. At the time I was putting in a slate porch and working outside each evening. I saw our family doctor who said not to worry about this unless I experienced muscle weakness. In March of 2010 I noticed a weakness in my left leg and saw a neurologist. He did blood tests, an MRI and an EMG. He mentioned possible, but not probable ALS and sent me to University of Pennsylvania. At the time I had a limp in my left leg and numbness like I was touching my leg through a glove. This started a journey of numerous EMG’s, MRI’s , blood tests, sensory tests, etc. I was treated with IVIG for 6 months getting IV everyday for a week once a month. I received IV Prednisone and then was weaned off 60 mgs Prednisone over a 6 month period. During the IVIG treatment I did not get worse.

During the Prednisone treatment I did not get worse, however I did not get any better. Over the past few years the numbness has gradually moved from my left thigh down my left leg, up my right to under my breast bone. I am now completely paralyzed from the waist down. I have bladder incontinence, sexual dysfunction and sphincter muscle loss in addition to atrophy, fasciculation’s and weakness. The sensory loss is such that I can’t tell if someone is poking me with their finger or a pin. Even through the sensory loss I am in constant pain, joints, feet legs, neck back. I have had at least three spinal taps checking for Lyme Disease and inflammation and nothing was detected. I was checked for an AVM, negative. My sensory test was unusual as it shows the signal leaving my brain and stopping abruptly in my spinal cord. However, nothing is detected on my MRI’s . I have also had a PET scan which was negative.

As of my last Dr. visit my arms and hands are normal. The doctor said without the sensory loss this looks like typical ALS. Which I don’t quite understand because everything I read says that the sphincter, bladder and sexual organs are not run by motor neurons.

I have been to University of Pennsylvania, John Hopkins and Mayo Clinic. My EMG’s show denervation and have from the beginning. I still have the numbness from my breast bone down. As of last week the doctor believes my abdomen muscles are weaker.

I have taken four years of symptoms, tests and treatments and condensed them into a few paragraphs as not to bore everyone. However, if this looks familiar to anyone, or if anyone can shed any light on these horrible symptoms I would be willing to answer questions and add more detail.

Thank you for taking the time to read, my family and I would appreciate any expertise or advice. We're just trying to find the best way to cope and rationalize everything thats going on.

 

[olly]

Hi,welcome to the forum. I see no one has answered you yet,sorry,i will try my best.

I do know a few pals have had sensory symptoms,its not the norm but it can happen.
In MND'S other areas have shown to be effected either during clinical tests or on autopsy.
Also weakness or paralysis can be described as numbness,i personally have had what felt like numbness in my left hand side which is weaker.
Here is some info

Sensory involvement is thought not to be a feature of amyotrophic lateral sclerosis (ALS). However, in the setting of a specialist motor neuron disease clinic, we have identified five patients with sporadic ALS and a sensory neuropathy for which an alternative cause could not be identified. In three individuals, sensory nerve biopsy was performed, demonstrating axonal loss without features of an alternative aetiology. These findings support the hypothesis that ALS is a multisystem neurodegenerative disorder that may occasionally include sensory neuropathy among its non‐motor features.

ALS is a progressive degenerative disease of the upper and lower motor neurons. Although it is thought to be a pure motor neuron disease, many autopsy studies have shown involvement of the non-motor pathways, both in the familial and in sporadic forms. Sensory nerve involvement was suggested decades ago when Bertrand and van Bogaert mentioned in their neuropathology report of Charcot ALS that in the peripheral nerve "the sensory fibers are as poor in myelin as are motor fibers."

 

[TerryG]

Prior to August 2009, how was your health:

Never got sick or just the same as everyone else?
Neck or bone ache?
History of depression?
Anything strange in the 5 years prior to?

Since 2009:
Have they MRI'd your Thyroid and Parathyroid?
Is your Vitamin D levels low to ultra low?
What about a Antinuclear Antibody or C-reactive protein tests?
You said numbness, what about burning sensation or pins and needles?

Terry

 

[olly]

Just to add... sexual dysfunction can be a symptom in many many illnesses but is not a direct symptom of the illness,if you get what I mean.
As for bladder incontinence that I can vouch for as being something to do with the umn involvement,many with pls/hsp have this.

 

[TerryG]

Prior to August 2009, how was your health:
Never got sick or just the same as everyone else?
Neck or bone ache?
History of depression?
Anything strange in the 5 years prior to?

Since 2009:
Have they MRI'd your Thyroid and Parathyroid?
Is your Vitamin D levels low to ultra low?
What about a Antinuclear Antibody or C-reactive protein tests?
You said numbness, what about burning sensation or pins and needles?
Terry

Ok, in my opinion and I'm not a doctor. Though it is mimicking ALS, it doesn't sound like ALS. If I had to guess, I would say Mononeuopathy because of the predominant somatic nerve involvement. This web site explains it best:
Mononeuropathy: Types, Causes & Risk Factors

Under types, I would guess Thoracic/Lumber radiculopathy and under diagnosis, you will understand my questions from previous post. Being that Prednisone halted progression while on it, have to lean towards autoimmune but depends on ANA test.

Terry

 

[zoohouse]

Were you tested for Guillain–Barré syndrome? The above article is excellent, and I think that alpha lipoic acid is something that all the PALS should take, and is something that might help you. My husband had numbness in his presenting limb from his foot to his knee, but it went away immediately with the IVIG, and did not return after he stopped 6 months later. My husband's ALS was pretty atypical as well, but presented differently as well. But at least with a diagnosis of ALS you can start SS, and get some equipment that will help you. I hope that it turns out to be GB or something like that as that can reverse. One of our neurologist named off several variations of ALS, and one did involve sensory loss.
Paulette