Diseases information. Disorders. Treatment.

Now, myoclonus. Two types of myoclonus. If I had my hands like this and I had a needle in the extensor compartment of the arm and I hold it like this so it must be firing, because I’m extending my hands at the wrist. I would see continuous firing and then a transient drop, firing, now it’s firing again and transient drop and firing. This is the so-called negative myoclonus. So it can be a drop out and firing, or alternatively firing. So it can be a positive discharge or a negative discharge. It is very difficult to localize although people have tried to kind of retrain a part of the brain. The origin of firing can be brainstem of origin, cortical in origin, the weirdest ones are chord in origin. Myoclonus can originate anywhere. Those are the two principles of a myoclonus. They are associated with certain conditions. A beautiful paper on this in the New England Journal on the differential diagnosis of the progressive myoclonic epilepsy’s. I will summarize it for you. There are five of them. Know the associations with these things. Lafora body disease, and therefore in the Lafora body. You must have seen a picture of it. They like to show the Lafora body, I don’t know why. Neuronal ceroid lipo-fucinesis (?), a disease that I see on a regular basis. I’ve never seen a case of neuronal ceroid lipo-fucinesis and I hope I never do, but I will mention neuronal ceroid lipo-fucinesis if I see a case of myoclonus, especially if I’m taking the orals. If I’m discussing it at a case conference I will mention it, I will think about it perhaps in my clinical practice. Maybe that why I’ll get biopsies of the fat pad right in front of the pec. But in general, I won’t.

Unverricht-Lundborg disease. Here’s the list. In that list is this family of MERF diseases, myoclonic epilepsy and regular end fibers. The significance of MERF and to a certain degree _ as well, is that we have now seen … I’m sure you have seen the laboratories coming from ATHENA, that there has been linkage, at least for some of these phenotypes, with specific mitochondrial genomic abnormalities. Mitochondrial genome. So they are beginning to understand that a little bit more. They might hit you with that. I hope they don’t. But this is a list of five disorders associated typically with positive myoclonus, often cortical but not necessarily so.
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I want to get to two other points on this list and the first is palatal myoclonus. Now palatal myoclonus is a weird thing and it is associated with a little anatomic factoid that people like to ask about so I’ll review it for you. Here is the phenomenon. This is some kind of, I don’t know, 76-year-old hypertensive, diabetic, alcoholic, multi-system renal failure guy who underwent a CABG and unfortunately had a cross-clamp time of about 56 hours. Came out and got off – can you believe it? – they had to shock him, he came back, but he was hyper-perfused with a blood pressure in the negative numbers for about 17 hours. You know what I’m getting at, don’t you? The nurse is very upset because he is bucking the vent, he’s bucking the vent rhythmically. “He’s bucking the vent rhythmically. Get the neurologist down here!” So you see this guy. He’s completely comatose, as you would expect. He was hypertensive, I mean he was zero-tensive for a long time and you know why he’s bucking the vent? Why we come to this conclusion? Because the vent tube is bucking around rather rhythmically no less. It wasn’t bucking, it was rhythmic bucking and it can have astonishingly fast frequencies or low frequencies and if you stand by the bedside without even doing an exam – I didn’t even take out my syringes – I suspected coma. So I’m sitting there and listening to this and there is this strange ack, ack, ack, clicking sound. What the hell is this? Well, it turns out that the palate can just go into a status myoclonica or something. It just starts going like this. And the rhythm can be highly variable. Low rhythm or fast rhythm. It is associated with a structural lesion, believe it or not. The major pathology associated with palatal myoclonus is hypertrophy of the inferialis. Ridiculous question so I put it in just for fun.

Just to end the case, there’s this weird syndrome of painful legs and moving toes and is just what it is called. What the presentation is, is typically in someone who has had a failed back or some kind of radiculopathy this is what happens. This is the foot, this is the little toe and, in the cases that I’ve seen, so strange – they come in because “I have to see a neurologist because I have a really bad callus on my toe.” Go see a podiatrist, for God’s sake. “No, you don’t understand. In my shoe my little toe is clicking away like this.” A little movement disorder. Painful legs, moving toes. I end with that because it is so ridiculous. It sort of captures the experience of this whole Boards preparation thing.

Isaacs’ syndrome – Isaac was a man, by the way, a real man – Isaacs’ is a variant of stiff-person syndrome. It’s not an axial disturbance, it’s an appendicular disturbance. Much more distal but it’s a variant on the theme of stiff-person syndrome.

I don’t want to talk about progressive encephalomyelitis with rigidity, I just don’t.

Hereditary dystonia, I do want to talk about that. Now when you see a dystonia, what’s weird about it is that it can be easily confused with spasticity and it can be easily confused with a kind of astasia abasia of complete ludicrous-ness that wastes your time. In a young person, in an Ashkenazi Jew for example, although it has also been described in the Philippines – it is a well-recognized disorder with an associated chromosomal abnormality. The association is 9, X-linked recessive. So it’s going to be in boys, for example. Or, this story. These dystonias are usually worse in the morning. They get better during the day. You would say, “Oh, this is functional.” If we sent out a private detective to follow him we would see that his dystonia did better during the course of the day when, interestingly enough, he is nowhere near the doctors office. Therefore, we would conclude that this is functional. Except that you had forgotten that the best way to be original is not to read, but Sagalla had described that kind of diurnal variation. Exquisite response to incredibly low dose of levodopa and furthermore, for the movement disorder specialist, if you have a dystonia in a young onset person and you don’t treat with levodopa at some point in an empirical trial, malpractice. It’s just not right. You give everybody a levodopa trial with early onset dystonia and you work up Wilson’s disease. That’s why I mentioned it.
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Tourette-ism. Look, Tourette-ism is a symptom. A symptom of many different things. What I’ve done for you is provided the TSSG criteria for Tourette’s disease, just so that you have seen them. The Tourette’s Syndrome Study Group criteria. I think people who have seen Tourette’s know the story. The criteria say onset before age 21. It’s always much younger. Don’t you find? I always find the onset of this, at least in some way, shape or form, before the age of like 10. Easily. And the story is that of a fluctuating tic course. To this day I still see Dick Cavett on television saying, “Does your child bark?” Remember that commercial? Maybe I’m just too old now. But “Does your child bark or grunt or …” but even if he does all those things, this is not Tourette’s. The point is that early on you have a tic and it goes away. It becomes something else. A different kind of tic. It can start with a blepharospasm, it can start with a little more complex stuff, that goes away. It varies over the course of time. Yes, there are associations with attention deficit states. Yes association with obsessive-compulsive disorders. Yes association with either simple tics or OCD or attention deficit in parents. Have the genetics been worked up, considering how robust that seems to be? No. Curious. Onset before the age of 11, variable tic course, exquisite response, if not to the high potency neuroleptic Haldol, then to pimozide. All these different things. Very controversial as to whether you treat with Haldol on the long term because long term exposure will increase the risk of tardive complications to the Haldol. Never mind, the underlying Tourette-ism complicated mets. But the criteria is what I think you should know about for the Boards.
Movement disorders
Sandifer’s syndrome. I mention it because it’s in the differential diagnosis of pediatric neurologic cases, and you will get them. Remember, in your orals you will spend at least one part with vignettes, pediatric vignettes. And the pediatric vignettes can hurt you. So have in your mind, because all of you will pass the written part, this is something that we will assume without question. When you go on to the orals be prepared for a discussion, be at least ready for, a discussion of ataxia in a kid. Floppy infant in a kid. Swallowing problems, or failure to thrive in a kid. Dementias in a kid. Have some kind of organizing principle, I don’t care how it is. I went with the verbal vomitus route. I said I will vomit up as much as I possibly can without getting myself into too much trouble until they stop me. Because if I’m talking, I know what I say as long as I am not fumbling. If I’m fumbling, I’m in deep S. And you know when you are fumbling. We’ve all had the experience of fumbling, of digging the hole deeper and deeper. If that happens, I don’t know but I know where I’d look it up. Sandifer’s syndrome I mention because it is a movement disorder that can sort of mimic reflux. It’s this prolonged head-tilt kind of thing. It’s in the differential diagnosis of reflux and gastrointestinal, failure to feed, failure to thrive-kind-of syndromes. So I mention it for kids, associated with gastrointestinal reflux.

Neuroid-acanthocytosis. Autosomal recessive. I like this disorder because it embraces a lot of different things. It embraces a little bit of a picture. These are the things, the acanthocytes, on a saline preparation in the blood. Just a smear with a little saline, they have acanthocyte formation. They have a little elaboration of CK but no myopathy to speak of. Weird movement disorders. In the differential diagnosis of a hyperkinetic movement disorder, early onset, no explanation, rise in CPK, you don’t know why, but neuroid-acanthocytosis. Some problem with, I don’t know, lipid layer of membranes. We don’t understand but the upshot is, in the differential diagnosis of hyperkinetic movement disorders that you have to work up, you have to look at Huntington’s disease. You have to look at Wilson’s disease, you have to look for a neuroid-acanthocytosis. You have to look to structural lesions giving rise to myoclonic lesions and all the rest. There is a linkage, X-linked, in certain patients, small numbers.
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I mentioned the PKC and the PNKC, the paroxysmal kinesigenic choreoathetosis and the paroxysmal non-kinesigenic choreoathetosis because when I was reviewing the tests over recent years, I saw it on a matching thing and I said, “Those bastards. Why would they take a general neurologist and ask him about PKC?” The difference is, PKC is weird. It begins with this kind of strange, funny feeling and then they begin a movement and there is something weird. And you say, “Oh, it must be functional” because you know what? It looks functional. They have this weird premonition, a little bit of movement starts up and boom, they are into some kind of brief paroxysmal choreoathetoid movement and here’s the thing, it is anticonvulsive responsive. It is exquisitely responsive to Tegretol. It is not associated with _ abnormalities on EEG. It is a movement disorder. There is a variant in which movement is not necessary to induce the choreoathetotic transient movement disorder and strangely that’s responsive to benzodiazepine. Curious. And it’s usually on one side and it’s usually heralded by some kind of weird sensory thing. The way it comes to your attention as general neurologists is you are being asked to comment on some kind of .. like a focal epilepsy or something and you are freaking out about the possibility of it being some kind of met, similar to some level of the cortex giving rise to something like a Jacksonian-March thing. The problem being that it is not a nice Jacksonian-March. It’s weird, it’s irregular. It’s got weird features to it. So maybe not so unreasonable that they talk about PKC and PNKC. But the difference that you will see on the matching tests is that one is anticonvulsive responsive, that’s PKC, and benzodiazepine responsive in non-kinesigenic choreoathetosis. It’s also been described that the non-kinesigenic form has dystonic predominant features, but believe me, it’s complicated. They look weird, is what I’m getting at, as most movement disorders do.

I’m going to pass over the hypnagogic dyskinesia. That’s the sleep disorder stuff. Sleep disorder people like to talk about that. The things that happen as you are drifting off to sleep.

I’m going to go to some of these weird ones. You can read about these things on your own. I don’t think these are important. These start to be, though. Some associations: here’s the story, a real story. Crazy woman. Justifiably crazy. Many doctors have commented, “She’s crazy.” So what do they do? Of course, refer them to me. Why not? This is all the crazy people. She sits down perfectly well. “Get up for me again, ma’am.” Her family members came with her, including the kids. The whole family, a whole crew. One of the kids said, “I like gramma a lot. I love her when she comes over to the house because she is fun to look at. But on top of that, it’s really cool because if you lay her down, because this happens when she lies down too, you can use the small of her back for like a tunnel for cars. It’s really cool.” Then when you take off her shirt, she’s got these perispinal muscles that look like Schwartzenegger. Huge perispinals. You could take your fingers and put them in the groove between the perispinals … cool. Up to your knuckles in perispinals. So she’s got perispinal muscle hypertrophy. She’s got this weird gait problem and she’s got like a tunnel for a back that her kids can use for their toys, she’s got rip-roaring diabetes mellitus and she is like a pinto. She’s got these blotches … she’s like a Michael Jackson. She’s got these blotches of café-au-lait white spots, vitiligo. I’ve just described for you one of the big things that they are talking about in autoimmune neurologic movement disorder, stiff-person syndrome. What’s the autoimmunity? The diabetes comes from autoimmune attack on beta islet cells, the stiffness comes from autoimmune attack, we think, on spinal neurons. Vitiligo has been well-identified as an autoimmune process. There is an association also with myasthenia gravis. The antibody in question is probably directed against glutamic acid decarboxylase. The enzyme that produces GABA. It’s a neat disease. They are working on some genetics now. I’ve only seen three cases but that woman stays in my mind for a long time.

PSP, the major features of that disorder there. To organize your trivia, I just gave you that little vignette a little while ago. You know what I mean by supranuclear gaze palsy, you know that there is a difference in the disease processes at different ages; Niemann-Pick in youth, Whipple’s in middle age and PSP in older ages. Men tend to be involved, and there is a picture associated with progressive supranuclear palsy. It has been termed, rather maliciously it seems to me, as the “stupid gaze” of PSP. They don’t like PSP. They also talk about the idiot pleasure of multiple sclerosis, and all that. They are brutal in these descriptions. But in PSP, I hate to tell you, it is rather accurate. So it’s the kind of thing where you walk into your clinic in the morning, you’ve had a cup of coffee at Starbuck’s – this is the life of a movement disorders person – you walk in, you pass by the usual hyperkinetics and then you come to one guy who is sitting there going… then you ask him to generate a saccade because you’re a very good neurologist, I’m a very good neurologist and so that’s why I shall test saccade. “Look here, now quickly look here.” Right? Now what do they have to do? They have to go through some lurching and entire movement of the head. “You don’t have to move the body, I’m just asking you to move your eyes.” And the reason why is because early in this disease they lose that saccade. But that happens in a lot of extrapyramidal diseases. You watch the saccade in the parkinsonian, its sort of slow and viscous and sort of saccadic inclusions in smooth pursuit. That’s an early finding. It’s seen in Huntington’s disease too. Then as time goes on they lose their capacity to generate saccade entirely, as they lose down-gaze first, up-gaze later. Giving rise eventually to virtual ophthalmo-paresis. But it’s supranuclear because you can overcome it with head movement in the oculo-cephalic maneuver.
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Okay, so here’s a story. This guy I trained with – and this guy was smart – I went to a very competitive program and this guy was smart. And he was like a M.D., Ph.D., he had published in Embo Journal. I didn’t even know what Embo Journal was. This guy is getting into all these journals. I’ve been giving these talks for a lot of years and about three years ago I see him in the audience, and I figure he’s going to give talk or something. He comes up to me and says, “I missed the Board by one.” He missed the Board by one? This is a guy who on his NCAT’s scored, like they had to rearrange the scoring system for this guy. He scored on his SAT’s … that’s why I hate the Boards. That’s why I like to give these talks because it’s different. It’s a different approach to how to deal with this. It’s a different way of organizing your data, if you know what I mean. It doesn’t reflect on your capacity as a clinician, to be perfectly honest.
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Machado-Joseph’s disease. I mention it because there is a lot of interest in the spinal cerebral ataxia’s. Seven types have been identified. I’ve seen seven and they are all CAG, Triplet repeat diseases. Basically there are now chromosomal associations for at least five of the seven types. But the concept here is that all these ataxias, they think, are associated with Triplet repeat disease. You’ve got to know a little bit about the Triplet repeat diseases. The paradigmatic Triplet diseases: Huntington’s disease. Autosomal dominant, one of the few associated with chromosome 4. The characteristic presentations of Huntington’s disease – I’m speaking to a sophisticated audience, I will not dwell on the obvious – but Huntington’s disease can present with the early behavioral disturbances without a movement disorder at all. It can present in its rigid form early on, it can present in its hyperkinetic form early on. Many different forms of the disease. There are a few things that we know; the length of the triplet repeat seems to predict the earlier presentation of the disorder but beyond that, we don’t know. The protein product from that gene abnormality in chromosome 4, the significance of that protein product is not clear. Huntington is the name of the protein product and we don’t know the significance of why that particular protein product is involved in the pathogenesis of that disorder. There is the phenomenon of anticipation, that is to say, earlier onset with length of triplet repeats.

I mentioned to you before. A constellation of three entities; Shy-Drager, which in the older nomenclature was going by the term idiopathic orthostatic hypertension, or pure anatomic failure. Olivopontocerebellar atrophy, or PCA, striatal nigral degeneration. The clinical picture of these things varies of course. There’s all kinds of issues. Like an OPCA can start off with a little bit of appendicular dysmetria, truncal ataxia, not much to write home about. “Gee, I don’t know why you are ataxic. Please don’t drink so much.” They come back two years later, they are a little bit stiffer. You don’t know, they are still ataxic, maybe even more so. It’s a slow progressive course, not really good levodopa response. Highly variable. Striatal nigral degeneration is usually a little bit more aggressive, very “parky”, very rigid, not levodopa responsive, go south in a hurry, that kind of stuff. In a hurry meaning over a one to two years kind of story. The reason why all these things come under one rubric is because of these oligodendrial cytoplasmic inclusions in virtually all cases of multiple system atrophy, suggesting that this process of degeneration may originate in the myelin sheath of axons.

Now why you should be inclined, if you are not a movement disorders person, ever to worry yourselves about Hallervorden-Spatz disease I’ll never know. But it is associated with a very characteristic MR. It literally looks like there are tiger’s eyes looking right back at you. To see that, which they sometimes like to talk about, then you are dealing with none other than Hallervorden-Spatz disease. Which is characterized by a progressive, often spastic but often parkinsonian, autosomal recessive, progressive, onset in the second decade, all these little aspects you can talk about. But the reason why I bring it up is that it shows up in exams, that tiger eye pallor.

Diffuse Lewy body disease, we talked about. These Lewy bodies show up all over the place. You know the clinical syndrome, characterized by fluctuating level of consciousness, exquisite levodopa sensitivity, levodopa responsive parkinsonism early but then it becomes this exquisite psychoto-form sensitivity, visual hallucinations, fluctuating mental course from the get-go.

Fahr’s even shows up in these differential diagnoses, because Fahr’s often is asymptomatic. It’s just like there is some serious calcification going on there in the basal ganglia. It could be Fahr’s disease. Yeah. “Why did you get the CT scan?” “Well, actually I ordered a CT scan of the thorax but I appreciate that information.” By the way, the basal ganglia calcification generates a little bit of a differential diagnosis, which includes predominantly hypoparathyroidism. And other disturbances of calcium metabolism. So I don’t mean to blow it off completely.