Autonomic Neuropathy

[FeatherMe]

The sweating spells I have are debilitating. There is no rhyme or reason for them. Can anything be done to help the situation?

[Neuropathy Expert 1 (NE1)]

Is it your whole body that is sweating?

Do you have any other symptoms (weight loss, fever, itching etc?)

Have you been examined/ sent for any tests?

[FeatherMe]

The sweating is basically on my torso.

I have had these symptoms for two years now. I changed my diet to a gluten free diet in October and have lost 28 lbs.

I saw an endocrinologist who did some tests but found no answers in his field.

My physiatrist says I have autonomic neuropathy - not sure there were any tests done. I do have progressive peripheral neuropathy of unknown origin.

[Neuropathy Expert 1 (NE1)]

Has the cause of your neuropathy been found?
Is it a form that runs in families (do you have any family members who are affected)?

I think there are 2 main issues:-

1) Diagnosing the cause of the neuropathy (how was the presence of neuropathy diagnosed?

2) Treating your symptoms (e.g sweating)?

What treatments have been tried so far?

[FeatherMe]

The polyneuropathy was diagnosed through NCTs and EMGs but no source has been found. Numbness, tingling, weakness, frequent falls resulting in many foot and ankle injuries has had me on crutches for two years now. I also drop things frequently and have lost strength in my hands. I have myoclonic jerks and a form of paroximal kinesthetic dystonia.

VEPs are abnormal, SSEPs are abnormal but do not show source, and periventricular white matter lesions are present.

I have arrythmias - SVT and PVC - hypotension, Coronary artery disease, carotid artery disease and peripheral artery disease.

Hashimoto's thyroid problems and a thyroid nodule.

Nothing has been done for my sweating episodes. Nothing has been done for much of anything. I was on lyrica but developed an allergic reaction - laryngeal edema plus put on 20 lbs while on it. I currently take baclofen, klonopin, lunesta, toprol xl, levothroid, and lortabs. I react poorly to most meds.

Most recently a neurologist said I have an obscure neurological condition, for what that is worth.

[clinicalguru1]

Has a lumbar puncture (LP)l been performed?

What did the NCT / EMG show exactly?

Any neurological conditions / hearing problems / eye problems / heart problems / orthopedic issues in the family?

Where were your parents born and where were there ancestors from?

[MG (Admin)]

Is the sural nerve involved according to the EMG?
Has a nerve biopsy been performed?

Has the possibility of HEREDITARY PNS AMYLOIDOSIS been considered?

Seeing the actual EMG / NCT results would be very useful.

[Neuropathy Expert 1 (NE1)]

Yes...amyloid is a consideration.

Do you suffer from pain as part of the neuropathy?

Has lactate been checked / other work-up for mitochondrial disorders been performed?

[FeatherMe]

My two most recent test results are below.
A nerve biopsy has not been performed.
HEREDITARY PNS AMYLOIDOSIS has never been mentioned.
I do have pain but what the source is I'm not sure as I have fibromylagia, the polyneuropathy, and bilateral spinal stenosis and peripheral artery disease. Since I have been put on baclofen my pain level has decreased.

Has lactate been checked / other work-up for mitochondrial disorders been performed? No. I was checked a small bit for CMT as my mother, her cousin, and her aunt all looked alike with heavy torsos and piano stick legs with high arches and leg weaknesses.

Thank you for being so kind, all of you.
Barb



5/9/07

MOTOR NERVE STUDY

Right Default Nerve
Stim site: Wrist Lat (ms) Dur Amp Area Dist C.V.
REC SITE
Long Finger 4167 1767 0.267 91.1 0

NOTES: Sympathetic Skin Response

Tibial Nerve
Rec Site: AH Lat Dur Amp Area C.V.
STIM SITE L R L R L R L R L R
Ankle 4.8 4.5 4.0 3.7 13.7 10.3 14.5 3.5 --- ----
Pop. Fos. 13.7 13.2 4.5 3.0 13.2 7.6 16.3 3.2 45.3 43.8

SENSORY NERVE STUDY

Sural Nerve
Rec. Site: Ankle Lat Pk Lat Amp
STIM SITE L R L R L R
mid calf 3.9 4.1 4.6 4.9 4.1 1.8

F-WAVE STUDY
Tibial Nerve
Rec. Site: AH Latency
Stim Site: Ankle L R

M wave 5.50 3.00
F wave 56.50 53.17
F-M 51.00 50.17

9/21/07
MOTOR NERVE STUDY
Peroneal Nerve
Rec. Site: EDB Lat Dur Amp Area C.V.
STIM SITE L R L R L R L R L R
Ankle 6.7 6.5 6.2 4.4 1.9 1.7 7.1 4.5 --------
Fib Head 13.6 13.5 6.6 5.2 1.8 1.5 7.1 4.5 40.5 41.4
Pop. Fos. 15.3 15.3 6.6 5.1 2.1 1.7 7.7 4.7 45.7 43.6

Tibial Nerve
Rec. Site: AH
STIM SITE
Ankle 6.7 5.8 4.8 5.2 11.6 9.7 25.8 22.8 ---------
Pop.Fos. 16.8 15.7 5.6 6.3 7.1 4.9 20.0 16.4 41.8 42.7

SENSORY NERVE STUDY

Peroneal Nerve
Rec. Site: dors.ft
STIM SITE L R L L L
lower leg 2.6 NR 3.5 10.7 38.7

Left Sural Nerve
Rec Site: Ankle
STIM SITE
mid calf NR

Sural Nerve
Rec. Site: Ankle Lat Pk Lat Amp C.V,
STIM SITE L R L R L R L R
mid calf 3.9 NR 5.1 4.0 35.7

F-WAVE STUDY
Peroneal Nerve
Rec.Sit: EDB Latency
Stim Site: Ankle L R
M wave 6.33 5.67
F wave 56.33 54.00
F-M 50.00 48.33

Tibial Nerve
Rec. Site: AH Latency
Stim Site: Ankle L R
M wave 6.17 5.67
F wave 56.17 58.67
F-M 50.00 56.00

EMG STUDY
Ins Act Fibs PSW Fasics Polyph MU Amp
L. Tibialis An norm none none none inc norm
MU Dur Config Pattern Recruit
norm poly norm norm

L. Gastroc. Med Normal

L. Ext.Dig.Br. norm none none none inc inc
inc poly irreg

L. Abd. Hallus norm none none none inc inc
norm poly norm norm

R. Tibialis An norm none none none inc inc
norm poly norm norm

R. Gastroc. Med norm none none none inc norm
norm poly norm norm

L. Gastroc. Med Normal
L. Vastus Med. Normal
R. Vastus Med. Normal
L. L4-S1 Normal

[Neuropathy Expert 1 (NE1)]

It sounds like a hereditary neuropathy of some kind is certainly suspected.

Which genetic tests for CMT were performed...there are many!

[FeatherMe]

CMT tests done were from Athena diagnostics. The test requested was Partial CMT - Demyelinating Only. For what was tested the results were normal but this was part of the response:

"However the clinical symptoms of your patient could likely be due to sequence alterations in genes not included in this panel."

"Nonetheless, while methodologicaly accurate, this analysis does not definitively rule out CMT due to 1. mutations in another gene (identified or not yet discovered), 2. mutations in regions of the genes not tested in this analysis and 3. mutations that are not detectable by the technology used in this assay."

[clinicalguru3]

I am afraid you are going to need to be more specific....it is important to know which precise genetic mutations ..(e.g. CMT1A (PMP22) were screened-for....it shouldn't be hard to find-out even if it means contacting Athena to ask them.

[FeatherMe]

TEST RESULT
PMP22 dup/del No duplication/deletion
Cx32 Sequencing No Sequence Alteration
MPZ " "
PMP22 " "
EGR2 " "
PRX " "
GDAP1 " "
LITAF " "


The report states:
Other testing available: Mutations in NFL and MFN2 genes have also been implicated as a causative factor in the development of CMT. Although clinical severity can vary in CMT, mutations in the above listed genes are generally associated with very similar linical phenotype. If this individual has not been tested for one or more of these genes, Athena Diagnostics, Inc. offers DNA testing for these genes, both individually as well as in panels, to further assist in the diagnosis of CMT for your patient."

The doctor who ordered this test was shortly thereafter stripped of her medical license and there has been no follow though. This was two years ago.

[Neuropathy Expert 1 (NE1)]

OK...obviously many genes (both known and unknown) have not been checked.

Please describe your family tree i.e. who exactly is or was affected and how they are related to you.

Please state "father's sister" rather than aunt etc.

[FeatherMe]

Family tree
MOTHER
Grandmother - died after 2nd stroke at age 50
Her aunt, grandmaother's sister - died after stroke in her 80's, had large torso, and piano stick legs, about 5'10" - Her daughter, my mother's cousin, looked just like her
Grandfather - told he died of old age
Mother
Looked like aunt and cousin, had high arches and narow heels - I have same - she also had polyneuropathy, weakness in her legs, muscle wasting(showed up later in life probably late 50's or early 60's), two low back surgeries - one due to herniated disc (age 40)and one to correct the botched job of the first surgery( age 43), 1st heart attack at 52, 2nd at 56, suffered with fatigue, inability to get to sleep, shortness of breath, chest pain, CHF, stroke at 76, mouth cancer into lung cancer and chest cavity. Died at 76.

FATHER
Grandmother - had stroke at 73 and died of heart attack at 76 - comments were made she had hardening of the arteries.
Grandfather - healthy, robust painter - died at 72 of multiple myeloma
Father
Had Parkinson's and Alzheimer's - He died at 78. He has four sisters.
The oldest one died at age 93 - had Alzheimer's. Next one - 42 in a fire.
Third sister is still alive at 79, has had heart bypass surgery and is in the beginning stages of Alzheimer's. Youngest sister is still alive at 77 and has had Alzheimer's for a while.