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What Do My Lab Test Reports Indicate?
Question: XXXXXXX YYYY@YYYY
Yes. Thanks.
I have a progressive, deteriorating undiagnosed disease. I have been to several doctors.
My symptoms continue to worsen: short term activity produces pain, this initially started with vertical activity,
Now also includes arm, hand activity. Pain is followed by fatigue, sweating with very short term activity (oily, not healthy sweat) . Plus I have numerous "dips", areas of atrophy: feet, ankles, calves, knees, shoulders, elbows, wrists, hands, especially palms and fingers
MRI. Head, back , legs/thighs was done. EMG normal
Lab work up normal,
Including:
Saliva test to r/o 35 types of muscular dystrophy - negative
Modifies Antibody Profile - negative
LEMS antibodies. - negative
FSHD - negative
Lyme - negative
Creatine kinase. 117
ANA - negative
C-reactive protein - negative
History of sleep apnea, use CPAP nightly.
Family history: father died ALS
Please help me. Last 3 doctors:
"I'm at my wits end."
"I'm baffled."
"You have a problem, I'm sorry."
I am very concerned. I need to know my diagnosis, hereditary?
Thank you.
Yes. Thanks.
I have a progressive, deteriorating undiagnosed disease. I have been to several doctors.
My symptoms continue to worsen: short term activity produces pain, this initially started with vertical activity,
Now also includes arm, hand activity. Pain is followed by fatigue, sweating with very short term activity (oily, not healthy sweat) . Plus I have numerous "dips", areas of atrophy: feet, ankles, calves, knees, shoulders, elbows, wrists, hands, especially palms and fingers
MRI. Head, back , legs/thighs was done. EMG normal
Lab work up normal,
Including:
Saliva test to r/o 35 types of muscular dystrophy - negative
Modifies Antibody Profile - negative
LEMS antibodies. - negative
FSHD - negative
Lyme - negative
Creatine kinase. 117
ANA - negative
C-reactive protein - negative
History of sleep apnea, use CPAP nightly.
Family history: father died ALS
Please help me. Last 3 doctors:
"I'm at my wits end."
"I'm baffled."
"You have a problem, I'm sorry."
I am very concerned. I need to know my diagnosis, hereditary?
Thank you.
Brief Answer:
Neurological and muscular diseases to consider.
Detailed Answer:
Hello and thanks for using HCM.
I have read your question and understand your concerns.
Unfortunately it is difficult to achieve a correct diagnosis online, without visiting the patient.
Furthermore our site is meant to offer medical information and can't replace the Doctor's conclusions.
However, your condition sounds both, neurological and muscular.
Besides tests that you undergone, a careful neurological examination and other tests are necessary to achieve a correct diagnosis.
Conditions to consider and even to exclude include multiple sclerosis, ALS, idiopathic inflammatory myopathy, dermatomyositis, polymiositis, etc.
Further tests include muscle biopsy, somatosensory and motor evoked potentials, spinal tap, genetic testing, endocrinology panel, etc.
Discuss with your Doctor about these issues.
Hope you found the answer helpful.
Let me know if I can assist you further.
Take care.
Neurological and muscular diseases to consider.
Detailed Answer:
Hello and thanks for using HCM.
I have read your question and understand your concerns.
Unfortunately it is difficult to achieve a correct diagnosis online, without visiting the patient.
Furthermore our site is meant to offer medical information and can't replace the Doctor's conclusions.
However, your condition sounds both, neurological and muscular.
Besides tests that you undergone, a careful neurological examination and other tests are necessary to achieve a correct diagnosis.
Conditions to consider and even to exclude include multiple sclerosis, ALS, idiopathic inflammatory myopathy, dermatomyositis, polymiositis, etc.
Further tests include muscle biopsy, somatosensory and motor evoked potentials, spinal tap, genetic testing, endocrinology panel, etc.
Discuss with your Doctor about these issues.
Hope you found the answer helpful.
Let me know if I can assist you further.
Take care.
Above answer was peer-reviewed by :
Dr. Raju A.T
Answered by
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