Read Full Text: Diagnosis and Treatment of Dystonia (Free to access)
Journal: Neurologic Clinics
Year Published: 2015
Ranked 51st on our 2015-2020 list of the 100 most influential OT-related articles
Regardless of where you work, you will likely have patients with dystonia on your caseload at some point.
While many of us associate dystonia with infancy and childhood, the movement disorder affects patients across the lifespan. After all, torticollis and severe writer’s cramp are both considered forms of dystonia, and the disorder is also seen in many patients with degenerative diseases and brain injuries.
This week’s article can make a profound impact on how we think about dystonia—and it provides some practical tips for working with patients when they do show up for treatment.
Let’s dive in.
What was the intent of this paper?
This article outlines what we know (and don’t know) about dystonia. The author offers current best practices for diagnoses and treatment.
What, exactly, is dystonia?
Dystonia is the third most-common movement disorder, behind Parkinson’s Disease (PD) and essential tremor.
But, despite its common nature, it can be much harder to describe (and recognize), compared to other movement disorders. That’s because there are so many different types of dystonia.
So, let’s get the lay of the land before we go any further. Dystonia…
- Is a movement disorder
- Is characterized by sustained or intermittent muscle contractions
- Causes abnormal—and often repetitive—movements, postures, or both
- Is characterized by movements that are patterned, twisting, and possibly tremulous
- Is often initiated by, or worsened by, voluntary action
- Tends to be associated with overflow movements
What are the different types of dystonia?
Dystonias can emerge at any age, and once they begin, they rarely remit. Some remain static, while others are progressive or intermittent.
Virtually any region of the body can be affected, presenting alone or in various combinations. Dystonia can occur in isolation or combined with other clinical problems.
To give you an example of how the variations manifest, let’s look for a moment at cervical dystonia, which is the most common focal dystonia.
Here are the different ways it can present:
This infographic is from the Diann Shaddox Foundation.
What causes dystonia?
Just like there are many manifestations of dystonia, there are also many causes.
Some are inherited, some are acquired—and, in some cases, we simply don’t know the cause.
Several brain regions have been implicated in causing dystonia, which has led to the theory that dystonia is caused by the dysfunction of a motor network that spans several areas of the brain.
Many forms of dystonia also seem to be caused by an impaired inhibitory process, abnormal sensory feedback, and/or maladaptive neuroplasticity.
What does the journey to diagnosis look like?
Because of the complexity of dystonia, the journey to diagnosis can be a long one.
Patients are frequently misdiagnosed for many years, and many are told they are suffering from a psychiatric problem. Even the most common and readily diagnosed subtypes of dystonia (like cervical dystonia) aren’t usually identified right away; the mean time from onset to diagnosis is 4-6 years!
The article gives a helpful decision tree for anyone who may be in the diagnostic phase.
What treatments are available?
Because very few dystonia cases can be addressed with curative therapies, treatment is largely based on alleviating symptoms.
And, because manifestations and causes are so varied, there is no single treatment algorithm—so, some combination of the following is often utilized.
Education/counseling
Education and/or counseling should be part of every treatment plan. Achieving best outcomes for these patients often entails a trial-and-error approach, which can, of course, be frustrating. So, a frank discussion of treatment options is essential to ensure that patients’ expectations are realistic.
Education and support can also come from online communities. Here are some examples:
- Bachmann-Strauss Dystonia and Parkinson Foundation
- Benign Essential Blepharospasm Research Foundation
- Dystonia Coalition
- Dystonia Ireland
- Dystonia Medical Research Foundation (DMRF)
- Dystonia Medical Research Foundation, Canada (DMRF Canada)
- Global Dystonia Registry
- National Institute of Neurological Disorders and Stroke
- National Spasmodic Dysphonia Association
- National Spasmodic Torticollis Association
- Dystonia Society UK
Occupational therapy and physical therapy
Benefits of therapy that directly address dystonia are often temporary. However, there are some approaches that have been tried—and may still be being explored—but have failed to garner sufficient evidence. Some of these include:
- “Constraint-induced” movement training to limit abnormal movements, while reinforcing normal ones
- “Sensorimotor retuning” with intensive exercise
- “Slow down” therapy
- Active exercise
- EMG feedback
- Kinesogenic taping
- Augmentation of somatosensory discrimination by Braille training
Unfortunately, some well-intentioned treatment strategies may actually be harmful. Some of these include:
- 4-6 weeks immobilization with a rigid splint
- Transcutaneous electrical stimulation
So, instead of fancier approaches, the author recommends:
- Establishing a regular stretching routine to guard against contractures
- Muscle relaxation methods to attenuate pulling and pain
- Strengthening of antagonistic muscles to balance abnormal postures
- Various assistive devices to increase independence and function
Medication
There are several medications that are used to manage symptoms, but the side effects can outweigh the benefits.
Surgery
There is a small subset of patients who respond well to surgery, notably to deep brain stimulation(DBS)/neuromodulation.
Here’s a video that outlines one patient’s journey:
Therapies that directly address the causes of the dystonia
As I mentioned earlier, there are many cases of dystonia where the cause remains unknown. However, there is also a growing list of known causes, some of which do have specific treatments, ranging from special diets to levodopa (the drug typically used to treat Parkinson’s Disease).
Just to give you a sense of this list, here are some of the disorders with dystonia that do have disease-modifying therapies:
Pediatric onset:
- Aromatic amino acid decarboxylase deficiency
- Biotinidase deficiency
- Cerebral folate deficiency
- Cobalamin deficiency (inherited subtypes A-G)
- Cerebral creatine deficiency type 3
- Dopa-responsive dystonia, complicated
- Dystonia with brain manganese accumulation
- Galactosemia
- GLUT1 deficiency
- Guanidinoacetate methyltransferase deficiency
- Homocystinuria
- Maple syrup urine disease
- Methylmalonic aciduria/acidemia
- Molybdenum cofactor deficiency (sulfite oxidase)
- Pyruvate dehydrogenase deficiency
Onset varies throughout the lifespan (see Table 3 in article)
- Abetalipoproteinemia (Bassen-Kornzweig)
- Ataxia with vitamin E deficiency
- Autoimmune movement disorders
- Cerebrotendinous xanthomatosis
- Coenzyme Q10 deficiency
- Dopa-responsive dystonia, classic
- Glutaric aciduria type 1
- Niemann-Pick disease type C
- Paraneoplastic movement disorders
- Propionic aciduria
- Rapid-onset dystonia-parkinsonism
- Wilson’s disease
What did the author conclude/discuss?
The author points out that treatment of dystonia has improved dramatically over recent years. There is a rapidly growing list of subtypes, with specific treatments that can target the underlying cause.
Knowing how to mix and match various treatment modalities of specific populations can be challenging, but significant benefits can be achieved for the vast majority of patients.
Takeaways for OT practitioners
1.) We can facilitate timely (and accurate) diagnosis
Dystonia is one of those conditions to tuck into the back of your mind—without forgetting about it. I’m sure there are instances where patients find their way onto our caseloads without having been correctly diagnosed. We need to be ready to communicate with our teams when we see cases that need further examination—and we need to be prepared to encourage referrals as needed so these patients can get proper diagnoses. As the number of known causes and specific disease-modifying therapies grows, it seems absolutely worth the long journey to get a correct diagnosis.
2.) We need more therapists specializing in dystonia
This article reminds me of why we need to keep advocating to be able to treat across state (and even country) lines. I can absolutely see the need for teletherapy for patients with these very specific conditions.
For most of us, there are probably not enough patients with dystonia in our locales to build speciality practices—but there certainly are enough patients across the globe who are not having their needs met.
Here’s how one doctor sums up the current underutilization of rehab for dystonia:
We are underutilizing these (rehabilitation-based) therapies—and, indeed, this is a worldwide problem. We need to raise the awareness of dystonia in allied health professionals, develop effective treatments, and implement them in service delivery models that are accessible and affordable.
3.) We need to be listening to the voices of patients with dystonia
There was a striking difference in tone of writing between researchers and actual patients. These patients often have to do a ton of self advocacy, becoming experts in their conditions. As with any chronic condition, we need to partner with these patients to understand the big picture of their journeys, rather than trying to impose overly simplified treatments that might not feel impactful.
If you have time, I highly recommend this YouTube video,
Here’s the full APA citation for this article:
Jinnah, H. A., & Factor, S. A. (2015). Diagnosis and treatment of dystonia. Neurologic clinics, 33(1), 77–100. Redirecting
. And it’s FUN!
. Often these are individuals who seek repetitive proprioceptive and vestibular inputs and have found body positions to meet these needs (not limited to the neck - I see it with finger positioning, toe walking/bouncing). The soft tissue component is often VERY hard to address and can only realistically be improved when sensory needs are being supported in other ways. Some improvement in head/neck position is a wonderful outcome of sensory supports but it’s usually not a primary goal for the client. Meeting sensory needs to improve participation, quality of life, etc…