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Neurology (Expert Forum)
Does this sound like a form of Neurodegeneration, and do any affect 20 year old?
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Does this sound like a form of Neurodegeneration, and do any affect 20 year old?
by Cow527, Jan 17, 2006 12:00AM
Hello all,
I have 20 years old, and I think I have some kind of neurodegeneration. I don't know much about them, but to me it sounds like Shy Drager or Parkinson's. Do they attack people as young as me, or is there one that does?
About 2 years ago I started getting weekly night terrors, and a tremor in my left hand. It would only twitch while the hand was completely relaxed: eg, in my pocket or resting. This symptom persisted until 6 monthes ago, until the frequency increased and other symptoms emerged.
Now the night terrors are nightly, and I have been having problems breathing. The resting tremor affects both my hands and feet and I am suffering from muscle faciculations (sorry if I spelled that wrong) on my entire body. My legs feel week and cramped most of the day, but my gait has not been affected. Also, yesterday my hand started to cramp on the side opposite the thumb. There is no purpose to the movements, but it's very painful. I can sit and watch the side of my hand pulsate. I don't know if this is related, but my hands are now always cold, no matter what the weather is. It could be related to my heart or something. I also have myoclonic jerks in my arms and legs reguardless of how sleepy I am. They happen at random intervuls during the day. There seems to be something twitching on my at any given time.
The earliest I could get an appointment is March 21st, so please help me. I'm not expecting a full diagnosis, but I am getting worried. A new symptom seems to emerge every few weeks. If you have anything to suggest, please do. Thank you.
Doctor's Answer
by CCF-Neuro-M.D.-PW, Jan 21, 2006 12:00AM
Neurodegeneration is a general term for a progression deterioration of neurological function associated with some form of cell loss or destruction in the central nervous system. There are many causes. It is very rare in someone so young, but there are a few rare causes.
This cannot substitute for a formal medical opinion, so you will need to see a neurologist as you are doing, to sort this out.
One important consideration in a young person with tremor is to look for Wilson's disease. THis is a disorder of copper metabolism that can result in tremor, pyschiatric disturbance and liver degeneration. It is treatable so important to diagnose to prevent further damage. Diagnosis is by blood and urine tests, and by ophthalmological examination for 'Kayser-Fleischer rings'
Blood tests for things like a hyperactive thyroid gland, calcium, liver/renal function should bedone to look for abnormalities that are reversible.
Juvenile Parkinsons and Huntingtons disease so occur but are very rare and less likely. There is a reversible form of parkinson/dystonia due to a gene defect that occurs at a young age called Segawa disease (or 'Dopa-reponsive dystonia' - L=dopa tablets essentially reverse the problem and coud be tried.
Some other considerations might be a late presentation of a metabolic disorder like Tay-Sachs, or Neuronal Ceroid lipofuscinosis (both associated with myoclonus and an increased startle response. New-variant Creutzfeld-Jacob disease is also a consideration,although it tends to be a bit faster than you describe.
Sorry to present so many diseases. I do not know what you have, it may be something readily treatable like I have mentioned. Only your doctor who sees you, can accurately come up with a list of possible diagnosis and choose tests based on the complete story and physical examination and/or MRI etc
Good luck
This cannot substitute for a formal medical opinion, so you will need to see a neurologist as you are doing, to sort this out.
One important consideration in a young person with tremor is to look for Wilson's disease. THis is a disorder of copper metabolism that can result in tremor, pyschiatric disturbance and liver degeneration. It is treatable so important to diagnose to prevent further damage. Diagnosis is by blood and urine tests, and by ophthalmological examination for 'Kayser-Fleischer rings'
Blood tests for things like a hyperactive thyroid gland, calcium, liver/renal function should bedone to look for abnormalities that are reversible.
Juvenile Parkinsons and Huntingtons disease so occur but are very rare and less likely. There is a reversible form of parkinson/dystonia due to a gene defect that occurs at a young age called Segawa disease (or 'Dopa-reponsive dystonia' - L=dopa tablets essentially reverse the problem and coud be tried.
Some other considerations might be a late presentation of a metabolic disorder like Tay-Sachs, or Neuronal Ceroid lipofuscinosis (both associated with myoclonus and an increased startle response. New-variant Creutzfeld-Jacob disease is also a consideration,although it tends to be a bit faster than you describe.
Sorry to present so many diseases. I do not know what you have, it may be something readily treatable like I have mentioned. Only your doctor who sees you, can accurately come up with a list of possible diagnosis and choose tests based on the complete story and physical examination and/or MRI etc
Good luck
I hope you're able to get some answers soon. I have similar symptoms due to thyroid disease (with the exception of night terrors...my son had those when he was a toddler though...VERY scary!!). I know you said you're dr has ruled it out but have you had your thyroid antibodies checked (TPO and Tg)? My labs have always been in range but it doesn't necessarily matter since the antibodies cause my symptoms to swing between hyper and hypo.
Just a thought.
Kelly
There could be something wrong with my thyroid that the doctor missed. I'll see if I can get another blood work done. I also recently found out that my Identical Twin Brother has the static thumb twitch that started my symptoms. Maybe he has an earlier state of the same condition.
I've been doing some research into ALS recently. Does that sound probable? I can only find general information reguarding it, but the age of onset is possible for people of my age. Thanks for any more responses.
Do you recall having a sore throat at all sometime in the 6 or so months prior to your symptoms begining? Do they seem worse during particular times of the month?
If either of these are the case you may want to also consider Sydenhams Chorea - a sequal to an untreated (or poorly treated) strep A throat infection (can easily be misdiagnosed as a viral sore throat), it could help to have your ASO titre checked but if you had a delayed onset (which can happen) this may have gone back to normal. This disease - a symptom of Rheumatic Fever can also damage the heart valve so I would follow up on that if this is a possibility.
The other is Chorea from hormones - Gravardium (not sure spelling is correct sorry) usually from excess oestrogen (or poor synthesis) and occurs more commonly in pregnancy or on the contraceptive pill (maybe you could investigate a more balance single phase pill if this could be a cause) in those that suffered Rheumatic Fever as a child but has also lately been linked to those adults who haven't but who seem to be hormonally susceptible and as most woman from Westernised countries have unbalanced progestrone to oestrogen this could be more common than is being accepted.
Anyway they're worth a thought. And if you really feel you have this but are dismissed initially keep on and follow it up - believe me this disease is still around and adults do get it. I suffered RF as a child and have suffered recurrances as an adult with carditis (heart inflammation) and joint inflammation, rash, nodules and the chorea.
I hope you find a diagnoses real soon! Good luck