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Suffer Low Back Pain, Stomach Sphincter Spamming, Food Intolerance, Permanent Anal Fissures. Suggestions?
Question: Complicated, multi system symptoms but with single unified neurological cause?
I'm male, 21. At 15 I was an elite athlete in perfect condition. However after that my body slowly degraded. Little/no drinking, no drugs, no smoking, no long term medications.
First noticed a decrease in exercise tolerance, if I hit a certain threshold of exercise my heart rate would just sit at 180/200 at not come down for ages. Accompanied with breathlessness.
The threshold decreased until *anything* would cause a rapid heart rate and breathlessness. Done everything with a cardiologist over the last 2 years other than a electrophysiology study/catherter ablation which may be happening in 4 or so months. Very unstable rhythm and rate as confirmed with long term monitoring, exercise tests. ECG is clear.
Additionally on a similar time scale I developed other conditions/symptoms. Detrusor overactivity (overactive bladder), confirmed by urodynamics. After 120ml, spasming starts. Detrosol XL only takes the edge off.
IBS/bowel/intestine/stomach sphincter spasming. Confirmed with colonoscopy. Again, medication only takes the edge off.
Permanent anal fissures. Diet is excellent, every topical solution used for long periods and botox injections. Nothing overcomes the XXXXXXX sphincter spasm, currently awaiting sphintorectoptomy.
Food intolerances. For no apparent reason developed intolerances to wheat, dairy and yeast (IGE protiens). Even with repeated and extended exclusion periods, they keep reoccurring.
Visual symptoms. Strange inability to focus at distance, highly variable. For some reason the focusing muscles were spasming without strain, and even today when it is 'good' I have a maximum focal distance of ~10m. Additionally I am very light sensitive, have a confirmed colour sensitivity, have constant white noise/interference which seems similar to what people describe as with migraine auras.
Lower back pain. When I lie down after a day, uncurling my lower back is extremely painful and spasms. It feels different to muscle strain and when I use my hands I can't find any soft tissue that is the source. Its almost as if its my actual spine, central.
Upper airways resistance syndrome. I weigh 56kg, yet appear to have mild sleep apnea (confirmed with sleep clinic). It doesn't make sense, but the evidence is there. Currently using CPAP.
Overall I've been experiencing significant exhaustion symptoms, which may have been a combination of food intolerances, the untreated UARS and the cardiology problems.
Early signs of arthritis in small joints of hands and rare strange calcium deposit within the wrist. Typically what you find in the shoulders.
All apart from the last ones could all be explained neurologically, and are highly tied in to the parasympathetic system. Over the last 3 years I've been to about 9 different specialists and everything is now pointing towards *something* to do with that parasympathetic system.
None of my symptoms fit the text books or what anyone has seen so far. I need some help to point the neurologist in the right direction, as with the other doctors they're all (understandably) playing the numbers.
I'm male, 21. At 15 I was an elite athlete in perfect condition. However after that my body slowly degraded. Little/no drinking, no drugs, no smoking, no long term medications.
First noticed a decrease in exercise tolerance, if I hit a certain threshold of exercise my heart rate would just sit at 180/200 at not come down for ages. Accompanied with breathlessness.
The threshold decreased until *anything* would cause a rapid heart rate and breathlessness. Done everything with a cardiologist over the last 2 years other than a electrophysiology study/catherter ablation which may be happening in 4 or so months. Very unstable rhythm and rate as confirmed with long term monitoring, exercise tests. ECG is clear.
Additionally on a similar time scale I developed other conditions/symptoms. Detrusor overactivity (overactive bladder), confirmed by urodynamics. After 120ml, spasming starts. Detrosol XL only takes the edge off.
IBS/bowel/intestine/stomach sphincter spasming. Confirmed with colonoscopy. Again, medication only takes the edge off.
Permanent anal fissures. Diet is excellent, every topical solution used for long periods and botox injections. Nothing overcomes the XXXXXXX sphincter spasm, currently awaiting sphintorectoptomy.
Food intolerances. For no apparent reason developed intolerances to wheat, dairy and yeast (IGE protiens). Even with repeated and extended exclusion periods, they keep reoccurring.
Visual symptoms. Strange inability to focus at distance, highly variable. For some reason the focusing muscles were spasming without strain, and even today when it is 'good' I have a maximum focal distance of ~10m. Additionally I am very light sensitive, have a confirmed colour sensitivity, have constant white noise/interference which seems similar to what people describe as with migraine auras.
Lower back pain. When I lie down after a day, uncurling my lower back is extremely painful and spasms. It feels different to muscle strain and when I use my hands I can't find any soft tissue that is the source. Its almost as if its my actual spine, central.
Upper airways resistance syndrome. I weigh 56kg, yet appear to have mild sleep apnea (confirmed with sleep clinic). It doesn't make sense, but the evidence is there. Currently using CPAP.
Overall I've been experiencing significant exhaustion symptoms, which may have been a combination of food intolerances, the untreated UARS and the cardiology problems.
Early signs of arthritis in small joints of hands and rare strange calcium deposit within the wrist. Typically what you find in the shoulders.
All apart from the last ones could all be explained neurologically, and are highly tied in to the parasympathetic system. Over the last 3 years I've been to about 9 different specialists and everything is now pointing towards *something* to do with that parasympathetic system.
None of my symptoms fit the text books or what anyone has seen so far. I need some help to point the neurologist in the right direction, as with the other doctors they're all (understandably) playing the numbers.
Hi,
Thank you for posting your query.
I appreciate your detailed description, it helps a lot. I can understand your discomfort with so many symptoms and lack of clear cut diagnosis. As you have mentioned, the crux of your symptoms can be explained by autonomic nervous system involvement, mainly the parasympathetic nervous system. In addition, the muscles, smooth and skeletal muscles are also affected.
Bedside autonomic function tests would help. These include isometric hand grip, ice cold hand immersion test, Valhalla manoeuvre, etc. These are described in standard textbooks of neurology such as Bradley's textbook. In addition, cardiac electrophysiology evaluation is useful, as you have mentioned.
Another set of conditions to look for would be mitochondrial disorders, as the set of symptoms experienced by you could occur in some mitochondrial disorders, such as MNGES- mitochondrial neuro-gastrointestinal encephalomyopathy syndrome. Blood tests for lactate and muscle biopsy to look for red ragged fibres would help in confirming the diagnosis.
Please discuss with your neurologist regarding these.
I hope it helps. Please get back if you have any more queries.
Best wishes,
Dr Sudhir Kumar MD DM (Neurology) XXXXXXX Consultant Neurologist
Thank you for posting your query.
I appreciate your detailed description, it helps a lot. I can understand your discomfort with so many symptoms and lack of clear cut diagnosis. As you have mentioned, the crux of your symptoms can be explained by autonomic nervous system involvement, mainly the parasympathetic nervous system. In addition, the muscles, smooth and skeletal muscles are also affected.
Bedside autonomic function tests would help. These include isometric hand grip, ice cold hand immersion test, Valhalla manoeuvre, etc. These are described in standard textbooks of neurology such as Bradley's textbook. In addition, cardiac electrophysiology evaluation is useful, as you have mentioned.
Another set of conditions to look for would be mitochondrial disorders, as the set of symptoms experienced by you could occur in some mitochondrial disorders, such as MNGES- mitochondrial neuro-gastrointestinal encephalomyopathy syndrome. Blood tests for lactate and muscle biopsy to look for red ragged fibres would help in confirming the diagnosis.
Please discuss with your neurologist regarding these.
I hope it helps. Please get back if you have any more queries.
Best wishes,
Dr Sudhir Kumar MD DM (Neurology) XXXXXXX Consultant Neurologist
Above answer was peer-reviewed by :
Dr. Prasad
Vallhalla manoeuvres have no impact during the episodes. I have done tests similar of ice cold hand immersion using constrast showers. They trigger the episodes rather than stabilizing rhythm or rate. Have not done isometric hand grip although cardiologist did not suspect any of the potential diagnostics as valves and physology were both excellent on ecg.
Not Leigh's disease as no movement disorders (as yet). Neuropathy, ataxia, and retinitis pigmentosa - the milder version of Leigh's fits better but still not great. I did have the childhood limb pain [put down to calf spasm/shin splints], don't think I have muscle weakness, balance is variable. Vision loss is suggested by retina, however all detailed testing has shown the physiology and light responsive of the eyes is perfect. Do have the cariology symptoms, no seizures as of yet.
I have had genetic sequencing previously as a 'Christmas present' by the 23andMe service. However it doesn't help us with mutations of genes as I can only see my version (C or T) and genotype (CC) for the SURF1 gene causing Leigh's.
Myoclonic epilepsy with ragged-red fibers does not fit as muscle functionality is good and hasn't degraded.
MNGIE would on paper appear close, gastro primarily with additional minor neurological symptoms. However the symptoms within these groups don't match up amazingly.
The rest of the mitochondrial disorders don't seem to fit any better. None of them jump out at me. Is there another group of disorders that could cause my symptoms, maybe intrusion into the spine? I have a history of small fatty lipomas on the trunk -> could one near my spine be causing such wide ranging symptoms?
What tests should I be looking to request, head and spine MRI etc. I'm working within the NHS so they understandably play the number game for efficiency. What test should I be fighting for?
Kind Regards,
XXXXX
Not Leigh's disease as no movement disorders (as yet). Neuropathy, ataxia, and retinitis pigmentosa - the milder version of Leigh's fits better but still not great. I did have the childhood limb pain [put down to calf spasm/shin splints], don't think I have muscle weakness, balance is variable. Vision loss is suggested by retina, however all detailed testing has shown the physiology and light responsive of the eyes is perfect. Do have the cariology symptoms, no seizures as of yet.
I have had genetic sequencing previously as a 'Christmas present' by the 23andMe service. However it doesn't help us with mutations of genes as I can only see my version (C or T) and genotype (CC) for the SURF1 gene causing Leigh's.
Myoclonic epilepsy with ragged-red fibers does not fit as muscle functionality is good and hasn't degraded.
MNGIE would on paper appear close, gastro primarily with additional minor neurological symptoms. However the symptoms within these groups don't match up amazingly.
The rest of the mitochondrial disorders don't seem to fit any better. None of them jump out at me. Is there another group of disorders that could cause my symptoms, maybe intrusion into the spine? I have a history of small fatty lipomas on the trunk -> could one near my spine be causing such wide ranging symptoms?
What tests should I be looking to request, head and spine MRI etc. I'm working within the NHS so they understandably play the number game for efficiency. What test should I be fighting for?
Kind Regards,
XXXXX
Thank you for getting back, and giving a lot of insights. I appreciate your analytical skills, and generally agree with your reasoning.
Regarding investigations, you should definitely ask for MRI brain and MRI spinal cord.
In addition, Visual evoked potential (VEP) and OCT would be required to assess the optic nerve and retina functions, respectively.
HUTT test (head up tilt test) after a cardiac electrophysiologist evaluation would definitely be useful.
For MNGES, a muscle biopsy with immunohistochemistry would be useful.
I would be pleased to be of any assistance in future too.
Best wishes,
Dr Sudhir Kumar MD DM (Neurology)
Regarding investigations, you should definitely ask for MRI brain and MRI spinal cord.
In addition, Visual evoked potential (VEP) and OCT would be required to assess the optic nerve and retina functions, respectively.
HUTT test (head up tilt test) after a cardiac electrophysiologist evaluation would definitely be useful.
For MNGES, a muscle biopsy with immunohistochemistry would be useful.
I would be pleased to be of any assistance in future too.
Best wishes,
Dr Sudhir Kumar MD DM (Neurology)
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Answered by
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