Skip to Content

Disclaimer

Disclaimer
MDS makes every effort to publish accurate information on the website. "Google Translate" is provided as a free tool for visitors to read content in one's native language. Translations are not guaranteed to be 100% accurate. Neither MDS nor its employees assume liability for erroneous translations of website content.

International Parkinson and Movement Disorder Society
Main Content

Beyond “torsion": non-motor features of dystonia

February 06, 2023
Episode:102
Series:Dystonia Special Series
In part 2 of the Dystonia Special Series, Dr. Francesca Morgante interviews Dr. Davide Martino on the non-motor features of dystonia.

[00:00:00] Dr. Francesca Morgante: Welcome to the MDS Podcast, the official podcast of the International Parkinson Disease and Movement Disorder Society. This is the special series on dystonia and it is a pleasure to us today. Dr. Davide Martino from University of Calgary, and the topic is Beyond torsion the non-motor features of dystonia. Welcome, Davide.

View complete transcript

[00:00:26] Dr. Davide Martino: Thank you very much, Francesca, for having me. Pleasure. 

[00:00:30] Dr. Francesca Morgante: Davide, which are the non-motor features of dystonia. 

[00:00:33] Dr. Davide Martino: So dystonia as we have learned in the probably past couple of decades, more intensely has a spectrum of non-motor features of dystonia that include sensory features, particularly dominated by pain and uncomfortable sensations related to the body region affected by dystonia.

There are important symptoms related to emotional dysregulation. Therefore, different forms of anxiety and [00:01:00] depressed mood are often reported by patients with different forms of dystonia. We have definitely been observing sleep disruption in people who have different forms of dystonia which again, can vary significantly from early insomnia to interrupted nighttime sleep and frequent nocturnal awakenings.

And in some cases also daytime sleepiness. And there are also other features that are still particularly poorly investigated, which include a sense of generalized fatigue through the day. Some patients report a sense of apathy. And there are other aspects that pertain to cognition, which are not apparent in everyday life, but may be related to executive functions.

And there's some more recent interest in sexual dysfunction in people with dystonia, which remains however very poorly and insufficiently explored aspect of this condition. 

[00:01:50] Dr. Francesca Morgante: So a wide spectrum of non-motor symptoms, but pain seems to be a particularly disabling feature of dystonia.

Can you describe [00:02:00] the characteristic of pain in dystonia and which type of dystonia are more affected by pain? 

[00:02:06] Dr. Davide Martino: So pain is present across different forms of dystonia and certainly it seems to be more central to the clinical presentation of cervical dystonia in the adult population.

 And people with generalized dystonia within the early onset forms of dystonia may report pain that affects primarily, again, the trunk, the torso and to a lesser degree also the limbs. People with hand dystonia may also report sometimes pain, particularly when performing the tasks that are inducing dystonia most intensely and commonly.

And there may be uncomfortable sensations in the eyes and people who have blepharospasm. The pain may have different quality and is usually predominantly presenting or manifesting as a musculoskeletal type of pain or a myofacial type of pain. In cervical dystonia, really it spreads from the neck to the shoulders and goes all the way down to upper back [00:03:00] and even upper limbs. And it is usually, as I mentioned, located to the areas that are affected mostly by dystonia. But if we think about specific forms of adult onset dystonia, like blepharospasm, the uncomfortable and unpleasant eye symptoms that people with blepharospasm report are often also accompanied by a pain triggered by light. So photophobia, which remains a very mysterious manifestation of blepharospasm. 

[00:03:25] Dr. Francesca Morgante: Do you treatment with botulinum toxin or the brain stimulation improve pain in dystonia. 

[00:03:32] Dr. Davide Martino: It does, and both these treatments do improve pain.

It is obviously, for botulinum toxin. This is also strongly related to the technique and to the type of treatment that a patient receives. And sometimes we need to follow the pain in cervical dystonia when we perform the injections. Not just following the abnormal posture or the normal movements, but we also need to follow the pain.

And that might give a good outcome to our injections. And DBS equally helps pain generally and in [00:04:00] many patients, particularly with botulinum toxin injections. Pain can be a symptom that can respond even in the absence of optimal response to motor features.

It's not uncommon that patients report having felt better with pain, but still having perhaps some of the motor features of cervical dystonia, a bit of tremor, a bit of pooling sensations. So definitely we can do a lot for pain in dystonia. And even though, I must say that many patients with severe pain who have dystonia also resort to other types of treatment, including general painkillers or even benzodiazepines, to try and alleviate the pain.

So it is sometimes a symptom that requires the treatment of which needs to be monitored because it may also be associated with self-medication from the patient's side. 

[00:04:46] Dr. Francesca Morgante: And now another very important feature is represented by the sleep disturbances.

Again, another multifactorial feature. Can you comment on that? 

[00:04:55] Dr. Davide Martino: Yeah, and you're right in saying it's multifactorial because obviously factor [00:05:00] analysis or cluster analysis that have been conducted in recent years show that sleep problems in dystonia are determined not just by the severity of dystonia per se, particularly if we look at cervical or cranial dystonia but also to other non-motor features of dystonia. And unsurprisingly, depression is probably one of the greatest determinants of sleep disruption in people with dystonia. So we have to keep in mind that sometimes treating other non-motor features may also help sleep disruption. Generally speaking it is important to interrogate the patient on the type of sleep disturbance that he or she may be presenting with.

And because the treatment varies depending on the type of sleep disruption that the patient reports. Another important aspect of sleep. Probably even a determinant of poor sleep is the fact that some patients, a proportion of patients with dystonia tend to use beyond the specialist's intervention, sometimes referring to the family physicians help. Benzodiazepines, which have an important impact on the structure of sleep. And I personally [00:06:00] find that my patients who take Benzodiazepins recurrently are also the ones who end up having more chronic progression of their insomnia which may impact on their general function.

So another important aspect when assessing sleep is getting a very good and honest medication history from the patient. 

[00:06:16] Dr. Francesca Morgante: Thanks for this important insight. Has a lot of impact on our clinical practice. And finally, there is the dark side of dystonia, the neuropsychiatrics spectrum, very often neglected and poorly treated.

What you can tell us about that? 

[00:06:32] Dr. Davide Martino: Well definitely alongside with pain, the depression and anxiety problems are the most common non-motor features in dystonia and now there is really a plethora of studies that consistently have demonstrated how depression and anxiety are the strongest contributors to poor quality of life and people with dystonia, particularly with adult onset dystonia. And certainly these have been investigated quite thoroughly and we know that there are forms of dystonia in which certain types of anxiety [00:07:00] disorders, for example, are more prevalent than in other forms.

For example, the social anxiety disorder, which is one of the key aspects of emotional disregulation and behavioral disregulation is more profoundly associated with those forms of dystonia that have an impact on social communication, so laryngeal dystonia. And secondly cervical dystonia certainly are characterized by a strong impact of social anxiety.

But it's also true that there may also be , an underlying neurobiological underpinning to emotional dysregulation in people with dystonia that could explain a certain proness to develop generalized anxiety. So rather than contingency related anxiety or a depressive disorder in people with dystonia.

[00:07:42] Dr. Francesca Morgante: So would you say that the same narrow normalities that determine the movement disorder would bring out also the neuropsychiatric spectrum and in particular depression, anxiety dystonia? 

[00:07:56] Dr. Davide Martino: This is certainly a very intriguing aspect that has not [00:08:00] been fully demonstrated yet.

But there's a lot of interest in performing, for example adequate imaging studies to corroborate this hypothesis. In my personal contribution to the field, I've also observed in a large population based studies that I conducted with using the Swedish national registries that depressive and anxiety disorders co-segregate with the dystonia in families indicating that unaffected relatives, like siblings, who are not affected by dystonia have a greater risk of developing mood and in general emotional disorders compared to the general population, which suggests that there is a tendency towards co-aggregation that it's more likely to have a neurobiological underpinning as opposed to be just a secondary characteristic to the motor disorder. 

[00:08:42] Dr. Francesca Morgante: Thank you, Dr. Martino. Thank you, Davide for this overview and update on the non-motor features of dystonia. I wish to thank you from behalf of the Movement Disorder Society. 

[00:08:53] Dr. Davide Martino: It has been a great pleasure. Thank you, Francesca.

Special thank you to:

Dr. Davide Martino
Associate professor in the Department of Clinical Neurosciences
University of Calgary

Host(s):
Dr. Francesca Morgante, MD, PhD 

St George's, University of London

London, England

We use cookies to give you the best possible experience with our website. These cookies are also used to ensure we show you content that is relevant to you. If you continue without changing your settings, you are agreeing to our use of cookies to improve your user experience. You can click the cookie settings link on our website to change your cookie settings at any time. Note: The MDS site uses related multiple domains, including mds.movementdisorders.org and mds.execinc.com. This cookie policy only covers the primary movementdisorders.org and mdscongress.org domain. Please refer to the MDS Privacy Policy for information on how to configure cookies for all other domains on the MDS site.
Cookie PolicyPrivacy Notice