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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Pain In Joints, Overactive Bladder, Loss Of Sense Of Smell And Hearing. Diagnosed Neuroferritinopathy. Any Thoughts ?

I have been diagnosed with a very rare neurological condition called neuroferritinopathy. However I am suffering from symptoms which are not recognised by my consultant as neuroferritinopathy.
1. I have pain in a number of joints.
2. I have an overactive bladder.
3. I am losing my sense of smell.
4. I am going deaf in my left ear.
Mon, 29 Jul 2013
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Anesthesiologist,  's  Response
Hello,
Welcome to Healthcaremagic.
You are affected by a disorder in which iron accumulates in brain and other cells.
It is due to mutation in gene calle FTL gene.
Please avoid intake of iron supplements.
At present, there is no absolute cure for Neuroferritinopathy.
You need physiotherapy and NSAIDS for painful joints.
Adequate calorie intake is necessary.
Only symptomatic management is currentl y anailable.Do all necessary investigaions like Ferritin level in bloo, MRI brain etc..
Consult with your family doctor and Neurologist as well as genetics expert to have a better management and followup.
Hope this helps.
Take care.
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Pain In Joints, Overactive Bladder, Loss Of Sense Of Smell And Hearing. Diagnosed Neuroferritinopathy. Any Thoughts ?

Hello, Welcome to Healthcaremagic. You are affected by a disorder in which iron accumulates in brain and other cells. It is due to mutation in gene calle FTL gene. Please avoid intake of iron supplements. At present, there is no absolute cure for Neuroferritinopathy. You need physiotherapy and NSAIDS for painful joints. Adequate calorie intake is necessary. Only symptomatic management is currentl y anailable.Do all necessary investigaions like Ferritin level in bloo, MRI brain etc.. Consult with your family doctor and Neurologist as well as genetics expert to have a better management and followup. Hope this helps. Take care.