Pearls on diagnosis and phenomenology

[00:00:27] Dr. Miryam Carecchio: Thank you. Thanks for inviting me, Francesca.

[00:00:30] Dr. Francesca Morgante: And we are going to have a conversation on pearls on diagnosis and phenomenology of dystonic syndrome. And I would like to start with the first question, Dr. Carecchio can you describe for us how you define dystonia as a movement disorder?

[00:00:48] Dr. Miryam Carecchio: Okay, so dystonia is probably the most complex movement disorder that we can face in clinical practice, and we know it's a hyperkinetic movement disorder. So there is an excess of involuntary movement, [00:01:00] which is characterized by involuntary muscle contractions. So patients present with abnormal posturing, which are caused by this underlying involuntary muscle contractions that can be either continuous or sub continuous and they can appear only in specific situations or during specific actions. Or in specific positions. So every patient may look different from all the others. And dystonia can also be associated with tremor that we sometimes call the dystonic tremor. So it can be even more difficult to categorize it as a dystonic problem when you see a patient. It's important to underline that dystonia can often be one of the movement disorders that we observe in patients affected by a number of different syndromes, and sometimes it is the prominent clinical feature, but it has to be observed, highlighted brought out by examination and this is why probably it is in my opinion, the most difficult movement disorder of all the ones that we can face.

[00:01:59] Dr. Francesca Morgante: So [00:02:00] you mentioned the examination and how this is a condition that is modulated by action. Can you share with us some tips on how to conduct the examination in people with dystonia?

[00:02:13] Dr. Miryam Carecchio: Okay, so thanks for asking me. I think this is the whole point of dystonia. So dystonia can be absent. When you examine a patient, and this is very important for our young colleagues to understand we first need to listen to patients. Patients will tell us what they found difficult to do, which actions they find difficult to perform, which position they find impossible to keep with the specific body part. So first you listen to the patient and then you try during your examination to create again that specific situation, which is person specific. So every patient can be different from the others, as we can say. And you need to try to observe that specific feature on examination.

So for example, if a patient tells you that he or she finds it difficult [00:03:00] to write, unless you ask the patient to write during your examination, you will never observe dystonia. So you need to ask the patient to do that specific action. If a patient tells you that he or she finds it difficult to hold an object in a specific position with a specific degree, for example, of pronation or supination of a form, unless you ask the patient to recreate that specific position, you will never observe dystonia. This is important to understand because if we conduct a standard neurological examination, we may not be able to find dystonia in that patient because we haven't asked the patient to do the right things. To bring out dystonia. Sometimes this is not true.

For example, if a patient comes to you with an abnormal rotation of the head that we call torticollis, which is a type of cervical dystonia that can be very obvious on a cross examination. But there are other features to keep in mind. For example, [00:04:00] patients may tell you. Some actions or some positions can alleviate dystonia.

And this is very person specific. So these are called sensory tricks sometimes. So patients can alleviate, so improve dystonia by performing a specific movement, for example. For example, patient with cervical dystonia can lightly touch their chin to bring back their head to a normal position and so on.

So sensory tricks are a very specific element to diagnose, to make a diagnosis of dystonia and also the pattern of dystonia. So dystonia is a movement disorder with a specific pattern. So if you keep on observing the patient for a while, you may be able to find a specific pattern which differentiates dystonia from other hypokinetic movement disorders like chorea. Chorea is unpredictable by definition, whereas you can predict in a way, dystonia because those muscle groups will keep on contracting in a certain way, and that is the challenge. So to [00:05:00] recognize that pattern by observing the patient for a while, sometimes it takes time.

So it's a difficult examination because it takes time and it's not a standard one. So you need to kind of invent it on the specific patient you have in front of you.

[00:05:13] Dr. Francesca Morgante: So you mentioned the word invented and you can be really creative when you assess people with dystonia, do you want to share with us some of the most creative tests in clinic that have been used to unmask dystonia?

[00:05:28] Dr. Miryam Carecchio: Yes. This is very funny. Sometimes patients are affected by musician dystonia, which is a type of dystonia that affects musicians. And depending on the type of instrument they play, they will tell you that they have this involuntary muscle contractions. But if you don't get the patient to play that instrument, you will never be able to see that. So you will never be able to observe dystonia. So sometimes I ask the patients to bring their instruments in my clinic and I ask them to play. Obviously sometimes it's difficult [00:06:00] because you can't get a patient to bring to your clinic a piano. But for example, I had patients that played different instruments that could be transported to my clinic. And they just started playing those instruments. Okay. Which is quite funny in a hospital. Sometimes patients need to run to get a dystonic attack in paroxysmal dystonia, which is characterizes by brief attacks of involuntary movements. So sometimes I have asked my patients to start running in the corridor, which is quite unusual, again, in a hospital.

And sometimes you need the patience to walk or to run for a while. So it is necessary to ask them to walk quite quickly for 15 minutes, for example, and then come back to your clinic so that you can observe dystonia if this is caused by a specific exercise. So a prolonged exercise. And again, if a patient isn't sitting in front of you, you won't be able to observe this. So you have to recreate that specific condition that is responsible for dystonic muscle contractions. So sometimes you have the patient go and [00:07:00] walk for 15 minutes, then come back. And maybe in that situation you'd be able, for example, to see foot dystonia like an inch rotation or an abnormal position of a part of a leg.

[00:07:10] Dr. Francesca Morgante: So now let's recreate the clinical scenario. So we have conducted a full detailed history trying to understand which action might determine that particular movement disorder that looks like dystonia. And then you conduct this very extensive clinical examination that you adapt to your patient. Then let's go to the next step after you recognize dystonia as a moment disorder. What are the main investigation that you need to perform in a person with dystonia, but in a child or in an adult with dystonia.

[00:07:41] Dr. Miryam Carecchio: Okay, so in general if a patient has isolated dystonia, which means that dystonia is the only abnormal finding that you see on examination There are no absolutely necessary investigation, but certainly a brain MRI is something that we all request. Why do we ask for a [00:08:00] brain MRI? Because we want to get imaging of basal ganglia, which are relevant to anatomical parts of the body where parts of the abnormal signaling comes from. So brain MRI is important to determine whether the imaging is normal or address some abnormalities which may be responsible for dystonia. For example, metal accumulation in the basal ganglia, which are sometimes seen in pediatric patients or some adult patients affected by very rare genetic conditions that cause, for example, iron accumulation in the brain.

But brain imaging, brain MRI, can also show a number of features that are sometimes specific for some genetic syndromes, genetic conditions. So for example there are a few genes with specific abnormalities of basal ganglia. And in children, this is very important because metabolic diseases can affect basal ganglia.

So patients affected by inherited, disorders of metabolism can have acute crisis which are sometimes the presentation of the disorder [00:09:00] itself. And during this metabolic crisis, basal ganglia can be damaged and you can get a child to develop dystonia acutely. So in that case, imaging will show you an acute damage of basal ganglia and will direct your differential diagnosis to a number of narrative disorders of metabolism.

Sometimes CT scan is important because calcium can accumulate in basal ganglia and can be responsible for a number of movement disorders, including dystonia was generally not isolated. And this happens in adult patients, so-called primary, familial brain classification so CT scan is important to observe calcium in the brain because brain MRI is not highly specific.

And then in cases in which you're not a hundred percent sure that what you're observing can be labeled as dystonia. EMG studies are of paramount importance. So you need a colleague to be able to perform an EMG in the muscle groups, which are affected by those involuntary contractions because signals from the muscles is important to be recorded and can give very important [00:10:00] additional information to eventually diagnose dystonia in place of other types of conditions that can resemble dystonia, the so-called dystonia mimic. So basically I would say brain MRI, CT scan. And in, children also, if you suspect a metabolic disorders, obviously you will start a workout with blood sampling the patient looking for acids, organic acids. It strictly depends on the clinical presentation, obviously.

[00:10:24] Dr. Francesca Morgante: We just mentioned genetic tests. So we are going to have a specific podcast on genetic tests because this is a huge topic for the diagnosis of this young syndrome, especially in childhood. But now let's talk about mistakes. These people with dystonia can be misdiagnosed and we can do many mistakes.

When assisting a person with dystonia, but in not recognizing or not going in the right, pathway. Can you tell us in your experience, which are the main mistakes that a person with dystonia [00:11:00] received during their lifetime?

[00:11:02] Dr. Miryam Carecchio: This is a very good question. Dystonia is very difficult to recognize even for expert neurologists. So think about other types of doctors. It's even more difficult in children who are affected by dystonia. Generally the lower limbs are affected first, and limbs in general are the first and anatomical part to be affected.

So if dystonia effects lower limbs, which is the case in most children. These children may be misdiagnosed as patients with, generally speaking, delayed motor milestones. They have no motor delay. They have an abnormal muscle contraction, especially when they start walking independently. So there's actually a delay, but this is not driven by an abnormality of the brain. It is driven by the presence of dystonia in lower limbs, which is absolutely absent sometimes if they don't walk. So in children dystonia can be misdiagnosed either as a general problem of delay, of motor delay or as an orthopedic problem. And this is something [00:12:00] that also includes adult patients. So if you get a patient with cervical dystonia, for example, and torticollis. Or an abnormal muscle contraction in the upper limb, which happens only when the patient writes.

The first thing that the GP tends to think is that is an orthopedic problem. So the patient is initially referred to orthopedic surgeons many times. Because the underlying thought is there is something wrong in the bones. There is something wrong in the ligaments and in the muscles. And muscles are considered a part of the pathology of orthopedic surgeons.

But actually it's neurological disorder. So muscles are controlled by the brain. So it's a neurological pathology. So the first mistake is the referral. So the first referral is actually wrong. And I think more than 80% of patients it's really unusual that you get to see a patient very early.

Also physiotherapists see patients with dystonia for rehab, but without reaching an early diagnosis. So they [00:13:00] start, doing muscle manipulations and things like that. But there is no specific correct diagnostic labeling. So I think one of the challenges is to spread the knowledge about what dystonia is.

And I always say we should start from the GPs because GPs are the first doctors that patients call when they start having a problem like that. So even pediatricians or GP should be our starting point to try and spread the knowledge and increased knowledge about dystonia.

[00:13:29] Dr. Francesca Morgante: One last question. A lesson that you learned from a person with dystonia.

[00:13:34] Dr. Miryam Carecchio: I learned many things, but there is one that I find very important and challenging and also interesting from a scientific point of view. I have observed, like many of my colleagues, that women affected by dystonia can have axial fluctuations of dystonia during the month. And this is linked to hormones.

So depending on the part of the menstrual cycle. Dystonia, can get [00:14:00] worse or better? And unless you ask your female patients whether this happens, they tend not to tell you. This has important implications in the therapy, I think, because if you know that one of your female patients has more severe dystonia in a specific part of the month, you may decide to increase or to modulate the therapy she is taking to try to improve her quality of life during those days. So we keep on thinking that, for example, medical therapy for dystonia is something which is equal. It's the same every day, but maybe there is a need to modulate it in women and there are no large studies demonstrating whether this is something linked to specific patients or is a phenomenon that can be observed in all women.

And I think this should be studied in more detail because patients tell you if you start asking all your female patients, whether they find more difficulty moving that specific part of your body, or if they feel that dystonia is worse [00:15:00] in some specific days of the month, they will tell you, Yes, I do. I have observed this, and we need to start asking this in a systematic way to our female patients. This is something we can do for them. And try to discuss whether we can find better therapeutic options.

[00:15:16] Dr. Francesca Morgante: Thanks a lot, Dr. Carecchio, Miryam, for these extensive and expert view of on the phenomenology and diagnosis of dystonia. Also your passion when dealing with these patients. There are still many unknowns. Your main message is that we really need to increase the awareness in order to recognize this movement disorder first because there are still too many diagnostic delays and the people are not treated properly. And it was my great pleasure to host you in this podcast series and goodbye.

[00:15:49] Dr. Miryam Carecchio: Thank you. Thank you for having me. Bye.