Symptom? Disease? Disorder?

Is ataxia a symptom? Yes, it can be. Ataxia (i.e., lack of coordination), specifically gait ataxia, is a symptom of many diseases and conditions, including the hereditary ataxias, being drunk, being an undeveloped baby, etc.

Is ataxia a disease? Yes, it can be, though only as shorthand for a longer disease name, such as spinocerebellar ataxia. Shorthand like this is almost the only way I use the word. I was born (conceived) with the genetic defect that causes the SCA3 disease in adulthood. After the defect lingered in me for about 35 years, I became symptomatic. I’m sure the damage (i.e., disease) started before age 35, but I don’t give that much thought. That’s only a small concern for others in the future with the genetic defect if there becomes a way to stop the progression.

The symptom of ataxia can be clarified most of the time by referring to it as gait ataxia (i.e., if that is what you mean).

The symptom of ataxia is not a disease. The symptom and disease are two different things that share the same name. All outward signs of the disease are symptoms; the disease itself has no visible signs except via an MRI or autopsy.

My most prominent symptom for ten years or so has been vision problems. Gait ataxia as a symptom has finally overtaken that in the last year or so. So, yes, one of the numerous symptoms of ataxia is ataxia. See here for more about that ambiguity in terms of what its symptoms are.

Ambiguity, continued

Some don’t seem to accept that the same word can be used in the name of the disease as for a symptom of the disease. I assume this ambiguity comes from naming the disease before it was well understood. In other words, the disease was named after its most prominent symptom.

Some can’t see past the same word being used twice to mean two different things. They seem to think that since one word is involved, it can only refer to one thing. Or that people who use the same word to mean either thing are erroneously referring to only one thing as having two different roles.

It is not that the same thing acts as both a disease and a symptom, it’s that the same word is used in the name of the disease as in the name of one of its symptoms.

Some use the word disorder instead of the word symptom, and in that case seem to think that ataxia can’t be both a disorder and a disease, and somehow conclude that it can only be a disorder and not a disease.

Here’s an analogy. If you’re coughing, you don’t refer to the cough as a disease. If you have a cold, the cold is the disease and coughing can be a symptom of the disease. Or if you like, the cough is a disorder caused by the disease.

The ambiguity with ataxia is simple: the word ataxia is used both as the name of a symptom and in the name of the disease that causes the symptom.

Well, there is atrophy

I’ve been a little fixated on how the same word (ataxia) is used in the names of diseases and also to describe one of the symptoms. I think it’s true that a vast majority of people (including myself) do this. But some do use a different, reasonable term: the disease can use the word atrophy, leaving the word ataxia to properly describe just a symptom.

This does open a can of nonparallel worms: atrophy describes the cerebellum of one with SCA, whereas ataxia describes a symptom of one with an atrophying cerebellum. I hope that no one thinks that SCA is ataxia of the cerebellum.

Admittedly, when I heard this term (cerebellar or spinocerebellar atrophy) in the past, I thought I was hearing something out of touch with the mainstream. Now that I’ve thought about it, I wish atrophy were in the mainstream. I wish the name of the disease described the disease not just one of its many symptoms.

Disease? Disorder?

Having SCA3, I have a disease, but there’s not a lot of consistency out there on calling this a disease, a disorder, or (in support groups) a totally different word. Brushing off the issue misses out on a fair amount of food for thought.

In general, disease and disorder are used somewhat interchangeably, especially for genetic and neurological diseases. I try to use the word disease as consistently as possible. I feel that disorder (in some cases, like mine) is a euphemism for disease and that disease is the more fundamental term.

Some feel strongly that SCA should be called a genetic disorder and not a disease, because it only causes a tiny disruption in normal bodily processes. However, since the result is cells in the cerebellum slowly dying, again I arrive at the word disease.

Often you’ll see ataxia in a list of disorders, referred to as a disease. Often you’ll see ataxia in a list of diseases, referred to as a disorder. The bottom line is that many refer to ataxia as a disease and disorder interchangeably; some authors of scientific papers don’t seem to care.

Notice that Wikipedia has many redirections in place. If you look up disorder, it redirects to disease. If you look up neurological disease, it redirects to neurological disorder. If you look up migraine, it says it’s a neurological disease. It’s a hodgepodge, but that’s reality. The entry on disease is interesting and insightful.

Disorders? Symptoms?

Some prefer to use the word disorder instead of symptom, and that’s fine with me—but I don’t. But I think that those who do this don’t like to think they have a disease, only that they have a list of disorders. A cold makes you cough rather than causing a coughing disorder; that’s how I would word it, anyway.

If you have an SCA, then you have a disease that causes various symptoms. Today, you can only try to treat and address the symptoms but not the disease. What’s desired is a treatment for the disease so that the symptoms are stopped. If you have an SCA and deny having a disease, then you seemingly deny that an underlying disease is causing you a list of symptoms.

The soup of alternatives

The words to think about here are primarily disease, condition, disorder, sickness, and illness (also ailment, malady, etc.), although it’s interesting to note that the most common word found among the names of thousands of rare diseases is syndrome. Most diseases don’t have disease in their names.

The term I’m most comfortable with—in writing—for what I have is neurodegenerative disease, which I suppose is a terser way of saying degenerative neurological disease. I hesitate to use neurological disease, except in speech, because I think that term best fits for issues that aren’t degenerative, such as migraine headaches. And for me personally, I also hesitate to use the term neurological disorder around others for fear that they’ll think it’s a euphemism for mental disorder.

Do I have a brain disease? Yes. That term has been and continues to be well used, for diseases such as Parkinson’s disease, Alzheimer’s disease, multiple sclerosis, etc. I find myself using that term more and more.

As a matter of word usage, I also avoid using the words sickness or illness about myself and SCA3, though some do use them.

I have SCA3, which was originally called Machado-Joseph disease before the genetics were known. In other words, it was thought of clearly as a disease before the SCA linkage was understood.

The best term to use will be influenced by your audience. When I was looking for a physical therapist, I had to initially communicate with people on the periphery that I didn’t want to scare away with unfamiliar terms, so I said that I had a movement disorder (the most “famous” being Parkinson’s disease) before I said that I had spinocerebellar ataxia.

Is my brain broken?

To avoid using the word disease and its variants, there’s a support group alternative suggestion of using broken: I don’t have a disease (or disorder or illness or sickness) because that would make me diseased and sickly; instead, part of me is broken. I think this has some merit towards affecting one’s attitude but not towards precision of terminology. To me, the imprecision of purposely using the wrong term isn’t worth trying to use it. Broken obfuscates the unhealing, degenerative nature of the disease.

Am I unhealthy?

I think that this question is the toughest. If having ataxia means that I’m unhealthy, then I will be progressively unhealthy until the day I die. There are two things that hold me back from thinking that’s a fully accurate use of the word with respect to someone like me:

  1. When I have my annual physical, with blood tests and so on, everything is fine. I get a clean bill of health.
  2. Unless aging is inherently unhealthy, then neither am I at this point. As I have said before, having ataxia is a bit like accelerated aging.

But I think it’s a tough call. When assessing healthiness, I think a little bit of allowance can be given for extenuating circumstances, whether it’s your age or some other underlying “condition.”

That said, I do sometimes refer to ataxia as being a health issue. In the early stages, you can have ataxia and either be healthy or unhealthy. In the later stages, it’s hard not to call your condition unhealthy.

Food for thought

Disease and disorder are often interchangeable, but not always. You cannot decide to stop using one word completely. Let’s say that you:

  • Wear glasses for simple nearsightedness. You aren’t sick or ill, and you don’t have a disease. Maybe you have a vision disorder. But are you as healthy as someone with perfect vision?
  • Have a cold. You are sick or ill, but you might not consider yourself to have a disease (but really, you do). You might consider yourself to be temporarily unhealthy.
  • Have a broken arm. You aren’t sick, and you don’t have a disease. Perhaps it could be said that you have a condition.
  • Are lightly intoxicated. You are not sick or ill, and you don’t have a disease. Again, I’d call this a condition.
  • Are an alcoholic. AA calls this an illness and not a disease. Wikipedia calls this a disorder or syndrome.

  • Are autistic. This is a disorder (a developmental disorder), not a disease. Still, you will find it in many disease compendiums.

  • Have Down syndrome. This is a congenital disorder and not a disease, though, again, you will find it listed in disease lists. Whereas SCA is degenerative and causes cells in the cerebellum to die, Down syndrome is a congenital disorder (less flatteringly known as a birth defect) that is established long before birth.
  • Have heart disease. There are so many terms bandied about under this umbrella, it’s too general of a term to quibble over. For example, you might have a stroke (an accident or insult; in other words, an event), and it might be caused by atherosclerosis (a disease).

  • Have a mental disorder, such as depression or anxiety. Note that mental illness is often used nowadays and sounds friendlier and less stigmatic, even though at issue is disorders of various kinds, but not diseases.

Mental illness is clearly a modern term, and it became popular as mental disorder overtook mental disease in popularity.

Additional food for thought:

  • In common usage, disorders are never contagious, but diseases can be.


Are disease names capitalized? I try to follow the rules of grammar, which are nicely detailed here:

In general, disease names are not capitalized except for the words that would normally be capitalized, such as proper names. It’s breast cancer, not Breast Cancer. It’s spinocerebellar ataxia, not Spinocerebellar Ataxia. It’s Machado-Joseph disease, not Machado-Joseph Disease. And so on.

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