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A few questions on the medical report
Hey everyone,
I have a few questions about some terms fuguring in my sister's report.
First of all, the numerous lesions in her brain (around 50) are, in my opinion, a solid proof that she has MS. I don't understand why the doctors are still hesitant to name the beast. Are these lesions permanent scars or do they tend to "disappear" with proper care and treatment.
They also detected hypersignals in her spine. What does it mean?
There is also the term diffuse cerebral atrophy. After googling this, I learned that it roughly means part of her brain is getting smaller. This is permanent damage right? Is there a way to minimize this effect, is it something that progresses?
Her (ok Im translating this not sure it's the correct term) visual and sensory evoked potentials are abnormal. Almost every member of our family has bad eyesight. Is it related?
Last but not least, the neuro seems to think that even though the MRI is suggestive of MS, he believes it could be Spinocerebellar Degeneration. Adding that there is a slow progressive cerebellum damage. We do not have a history of Spinocerebellar Degeneration in the family. According to google, this is an extremely worrying situation as there are no treatment to slow down the disease and that death occurs, in average, 10 to 15 years after the diagnosis. Are you familiar with this disease? What are the odds of developing this without a family history. Are the symptoms similar to those of MS?
I hope you don't mind all these questions. Thank you very much for your help.
I have a few questions about some terms fuguring in my sister's report.
First of all, the numerous lesions in her brain (around 50) are, in my opinion, a solid proof that she has MS. I don't understand why the doctors are still hesitant to name the beast. Are these lesions permanent scars or do they tend to "disappear" with proper care and treatment.
They also detected hypersignals in her spine. What does it mean?
There is also the term diffuse cerebral atrophy. After googling this, I learned that it roughly means part of her brain is getting smaller. This is permanent damage right? Is there a way to minimize this effect, is it something that progresses?
Her (ok Im translating this not sure it's the correct term) visual and sensory evoked potentials are abnormal. Almost every member of our family has bad eyesight. Is it related?
Last but not least, the neuro seems to think that even though the MRI is suggestive of MS, he believes it could be Spinocerebellar Degeneration. Adding that there is a slow progressive cerebellum damage. We do not have a history of Spinocerebellar Degeneration in the family. According to google, this is an extremely worrying situation as there are no treatment to slow down the disease and that death occurs, in average, 10 to 15 years after the diagnosis. Are you familiar with this disease? What are the odds of developing this without a family history. Are the symptoms similar to those of MS?
I hope you don't mind all these questions. Thank you very much for your help.
Thank you very very very much for your replies. Ess, thank you for digging more into the spinocerebellar degeneration. It's very kind of you. Also Thank you Poppy for the link and input
She's 26 years old. A term you've used has caught my eyes: metabolic disorder. My sister has suffered from anorexia for 2/3 years. That started in 2005 and got better around 2007. She's fine now. No more eating disorder. You think that has affected her brain a long time ago? It's frightening how what we put (or don't put) through our mouth affects our health and comes back to bite you in the ... years later.
I keep thinking about our family's health history. A few members of my family died of heart attacks or diabetes, but we do not have any history of neurological disorder. Both my parents are in their sixties and never suffered from anything neurological, not even tremor. I'm really clueless. It seems people who suffer from this condition don't live very long.
As for her walk, except when she gets very tired, her walk is normal. She tends to walk sideways, like can't walk in a straight line, but we never worried about that, it wasn't very pronounced.
Also, my guess is spinocerebellar degeneration would cause permanent damage, but she says that, now, she's fine. Aside from hand tremor when she's stressed, she says she's alright, even her walk improved. All I know is it would help if she can FINALLY get an appointment to help answer some questions.
She's 26 years old. A term you've used has caught my eyes: metabolic disorder. My sister has suffered from anorexia for 2/3 years. That started in 2005 and got better around 2007. She's fine now. No more eating disorder. You think that has affected her brain a long time ago? It's frightening how what we put (or don't put) through our mouth affects our health and comes back to bite you in the ... years later.
I keep thinking about our family's health history. A few members of my family died of heart attacks or diabetes, but we do not have any history of neurological disorder. Both my parents are in their sixties and never suffered from anything neurological, not even tremor. I'm really clueless. It seems people who suffer from this condition don't live very long.
As for her walk, except when she gets very tired, her walk is normal. She tends to walk sideways, like can't walk in a straight line, but we never worried about that, it wasn't very pronounced.
Also, my guess is spinocerebellar degeneration would cause permanent damage, but she says that, now, she's fine. Aside from hand tremor when she's stressed, she says she's alright, even her walk improved. All I know is it would help if she can FINALLY get an appointment to help answer some questions.
Although I can't think straight to save myself today, I'll add a little to what ess has put really well ............ 50 lesions isn't unfortunately/fortunately??? a slam dunk for MS. It all depends where they are. There are four locations used to 'properly' diagnose someone with MS using the McDonald criteria , periventricular, juxtacortical, infratentorial or spinal cord. Here's a website with some info on diagnostic criteria
http://en.wikipedia.org/wiki/McDonald_criteria
As for the cerebral atrophy, a stab in the dark would be that she has had lesions that have disappeared, creating what they call 'black holes'. My understanding is that these eventually cause shrinkage in total brain volume, ie cerebral atrophy.
Best wishes
Poppy
http://en.wikipedia.org/wiki/McDonald_criteria
As for the cerebral atrophy, a stab in the dark would be that she has had lesions that have disappeared, creating what they call 'black holes'. My understanding is that these eventually cause shrinkage in total brain volume, ie cerebral atrophy.
Best wishes
Poppy
This is from the web site of the (US) National Institute of Neurological Disorders and Stroke:
What are Ataxias and Cerebellar or Spinocerebellar Degeneration?
Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.
Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person’s nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration.
Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreich’s ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history.
Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.
______________________________________________________
Does your sister have ataxia? This is usually displayed as an abnormal walk, often with feet rather far apart to maintain balance. As noted, it is caused by cerebellar degeneration, and cerebellar degeneration in turn can have several causes, including MS. Neither the degeneration nor the resulting ataxia is considered a diagnosis in and of itself, unless it is hereditary, and that's not the case in your family.
So to me, it's rather like saying your sister is diagnosed with a cough. Yes, but why? What's the underlying cause?
I would be asking this doctor if spinocerebellar degeneration also causes problems in parts of the brain other than the cerebellum (assuming your sister has MRI lesions in other areas). I'd be asking for sure if it causes abnormal evoked potentials, particularly visual. The optic nerve is certainly not part of the cerebellum. And regarding the various other symptoms and signs she has, including overall brain atrophy, whether these too could come from the degeneration. I'm highly doubting this, but am not medically knowledgeable enough to be sure about my facts here.
In other words, if spinocerebellar degeneration cannot cause all the abnormalities that have been observed and tested for, then how does he account for the rest? It sounds to me as if MS is to blame for both the degeneration and the many other issues noted.
ess
What are Ataxias and Cerebellar or Spinocerebellar Degeneration?
Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.
Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person’s nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration.
Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreich’s ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history.
Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.
______________________________________________________
Does your sister have ataxia? This is usually displayed as an abnormal walk, often with feet rather far apart to maintain balance. As noted, it is caused by cerebellar degeneration, and cerebellar degeneration in turn can have several causes, including MS. Neither the degeneration nor the resulting ataxia is considered a diagnosis in and of itself, unless it is hereditary, and that's not the case in your family.
So to me, it's rather like saying your sister is diagnosed with a cough. Yes, but why? What's the underlying cause?
I would be asking this doctor if spinocerebellar degeneration also causes problems in parts of the brain other than the cerebellum (assuming your sister has MRI lesions in other areas). I'd be asking for sure if it causes abnormal evoked potentials, particularly visual. The optic nerve is certainly not part of the cerebellum. And regarding the various other symptoms and signs she has, including overall brain atrophy, whether these too could come from the degeneration. I'm highly doubting this, but am not medically knowledgeable enough to be sure about my facts here.
In other words, if spinocerebellar degeneration cannot cause all the abnormalities that have been observed and tested for, then how does he account for the rest? It sounds to me as if MS is to blame for both the degeneration and the many other issues noted.
ess
I'll take a stab at this, and I'm sure others will chime in as well. Maybe we can give you some answers.
I don't know why she hasn't been diagnosed with MS either. Some doctors are very hesitant, even meek, about giving a diagnosis unless the MRI looks exactly like the ones they studied in neurology. Perhaps her doctor doesn't see the shapes or locations to be 'textbook,' and doesn't have the needed knowledge or competency to put 2 and 2 together and get 4. We've discussed maddening neuros here a zillion times.
But diagnosis is more than just what the MRI looks like. It's the whole picture, including other tests, lab work, and the clinical exam, which is extremely important. If she's not seeing an MS specialist, she should be.
MS lesions are permanent in the sense that they never totally resolve, but they often do heal over a fair amount. I think that's how remissions are possible. Hypersignals in the spine are pretty much the same thing as lesions in the brain, just different wording. That's how MRIs can see the lesions.
As to cerebral atrophy, yes, that means shrinkage of the brain. I don't know how old your sister is, but after a certain point, everyone's brain shrinks somewhat. So it's a matter of how much, to determine whether this is abnormal. It seems that for your sister, that's true. It's true for me too. In my case that doesn't seem to have affected me mentally at all, at least thus far. There's nothing that can be done about atrophy.
Sensory evoked potentials determine how well certain sensory nerves are functioning. Again, this is compared to the average person as measured many times. The visual ones show how quickly what the eye sees gets to the brain for processing. In MS, a lesion or lesions on the optic nerve(s) can slow down this function. This is not at all something that can be noticed concsiously by the person with this condition, as it's still extremely fast. It has nothing to do with how well the eye sees, only with how quickly the brain can evaluate what the eye sees. In my case, the right eye is slower than normal. But from a practical standpoint, I have no eye problems.
Now to spinocerebellar degeneration. I'll have to leave most of this to others more knowledgeable, but I find the idea confusing that this is a standalone condition. Certainly spinocerebellar degeneration can be a big part of MS, and can describe the process by which MS does its damage. If the cerebellum part of the brain has significant lesion damage from MS, it can be said to be degenerating. Same thing with the spine. Maybe someone will describe how this condition can be different from MS.
That's it for now. Hope it helps.
ess
I don't know why she hasn't been diagnosed with MS either. Some doctors are very hesitant, even meek, about giving a diagnosis unless the MRI looks exactly like the ones they studied in neurology. Perhaps her doctor doesn't see the shapes or locations to be 'textbook,' and doesn't have the needed knowledge or competency to put 2 and 2 together and get 4. We've discussed maddening neuros here a zillion times.
But diagnosis is more than just what the MRI looks like. It's the whole picture, including other tests, lab work, and the clinical exam, which is extremely important. If she's not seeing an MS specialist, she should be.
MS lesions are permanent in the sense that they never totally resolve, but they often do heal over a fair amount. I think that's how remissions are possible. Hypersignals in the spine are pretty much the same thing as lesions in the brain, just different wording. That's how MRIs can see the lesions.
As to cerebral atrophy, yes, that means shrinkage of the brain. I don't know how old your sister is, but after a certain point, everyone's brain shrinks somewhat. So it's a matter of how much, to determine whether this is abnormal. It seems that for your sister, that's true. It's true for me too. In my case that doesn't seem to have affected me mentally at all, at least thus far. There's nothing that can be done about atrophy.
Sensory evoked potentials determine how well certain sensory nerves are functioning. Again, this is compared to the average person as measured many times. The visual ones show how quickly what the eye sees gets to the brain for processing. In MS, a lesion or lesions on the optic nerve(s) can slow down this function. This is not at all something that can be noticed concsiously by the person with this condition, as it's still extremely fast. It has nothing to do with how well the eye sees, only with how quickly the brain can evaluate what the eye sees. In my case, the right eye is slower than normal. But from a practical standpoint, I have no eye problems.
Now to spinocerebellar degeneration. I'll have to leave most of this to others more knowledgeable, but I find the idea confusing that this is a standalone condition. Certainly spinocerebellar degeneration can be a big part of MS, and can describe the process by which MS does its damage. If the cerebellum part of the brain has significant lesion damage from MS, it can be said to be degenerating. Same thing with the spine. Maybe someone will describe how this condition can be different from MS.
That's it for now. Hope it helps.
ess
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