Condition Overview and Symptom Presentation
I find that many people have either never seen these conditions, and sometimes even physicians have never even heard of them. I would like to take some time to give you some background on each one.
Parkinsonism
- Constellation of symptoms
- Resting tremor
- Muscle rigidity
- Akinesia and/or bradykinesia
- Postural Instability
parkinsonism refers to a constellation or group of symptoms that we tend to see. A resting tremor is a tremor typically in the hand when the arm is at rest, so not an action tremor like we would see with a central tremor. Muscle rigidity can be one of the symptoms. That is stiffness, especially in the upper extremity. This can be combined with akinesia, lack of movement, or bradykinesia, or slow movement. There can also be postural instability as well. The most common condition associated with this constellation of symptoms is Parkinson's disease or sometimes called idiopathic or typical Parkinson's disease. I have even recently heard it called benign Parkinson's by someone. I do not think there is much benign about Parkinson's disease, but definitely, when we compare it to the symptoms and conditions that we are going to talk about today.
Atypical parkinsonism
- Overlapping features with PD
- More rapid functional decline and disease progression than PD
- Standard therapies for PD provide only partial benefit with increased side effects
- Complex symptom presentation that responds best to a multidisciplinary approach
(McFarland & Hess, 2017)
These conditions have features that overlap with Parkinson's. You are going to see the features we just talked about; the slowness of movement, the stiffness, and the rigidity. What is different is there is a much more rapid decline in disease progression than with typical Parkinson's disease. These have been referred to as Parkinson's plus syndromes, but this language has started to phase out. For that, I am glad. People often thought it was Parkinson's plus something good. The "plus" are the symptoms that come along with the disease progression, and these are not good. We also find that the standard therapies for Parkinson's like the dopaminergic medications, dopamine agonist medications, and even DBS, deep brain stimulation surgery, are not really effective for these conditions. And if they are, they only provide a partial benefit, and they can have increased side effects. They have a very complex symptom presentation that really responds best to a multidisciplinary approach. We are going to see later in the talk where we fall within this team. Teamwork makes the dream work with these diagnoses.
Atypical parkinsonism -Progressive Supranuclear Palsy (PSP)
- 5-6% of people with parkinsonism
- The estimated prevalence of 5 per 100,000 people
- Incidence is 5.3 per 100,000 men and women between ages 50-99.
- The average age of onset is between 63 and 66 years
- Mean survival 5 to 9 years from disease onset
(Golbe, 2014; McFarland & Hess, 2017)
This is the most common of the atypical parkinsonism s. About five to 6% of people with parkinsonism have PSP or progressive supranuclear palsy. It has a pretty low incidence and prevalence. The age of onset is typically between 63 and 66 years of age. Sometimes, these are referred to as "prime of life" brain diseases as the mean survival is not very long. The survival rate is five to nine years. It has a much quicker progression and decline than we would typically see with Parkinson's disease.
If you look at the umbrella of all of the atypical parkinsonism disorders, you will see that everything is affected. We see changes in their movement, their gait, their balance, and many falls. This is something to watch out for. Often, these conditions are misdiagnosed as Parkinson's early on, especially if the person goes to a family practice doctor or a neurologist that is not familiar with treating these.
- PSP symptom presentation:
- Early gait and postural instability
- Unexplained falls
- Gaze palsy
- Axial rigidity
- Bradykinesia
- Dysarthric speech
- Progressive dementia
With PSP in particular, you may notice a lot of falls especially backward, affected eye movements, and more axial rigidity. You will also see the bradykinesia or slowed movements. Their speech is often affected and they have progressive dementia. I was really shocked with my first PSP patient. I went to get her from the waiting room one week, and she did not recognize me. This is someone who had seemed to only have a little bit of a cognitive slowness and difficulty. The decline can be very quick.
- PSP movement changes:
- Early gait dysfunction and falls that often lead to injury
- Freezing of gait
- Reckless turns
- Lack of insight into postural instability
- “Rocket” sign in transfer
(Golbe, 2014; McFarland & Hess, 2017)
As I mentioned, there will be early gait dysfunction and falls, and often the falls lead to injury. It is not just a little stumble where they can catch themselves, they fall. Sometimes, in our clinic, we say it sounds like a tree just going over. We have heard these individuals fall in our waiting room, and it sounds completely different than our Parkinson's patients that fall. There is also freezing of gait. We are going to show a video later and talk a little bit more about what that looks like. They complete reckless turns. This typically looks like a quick pivot where the shoulders turn first and the feet stay stuck. They then spiral into a fall. They generally have a lack of insight into their postural instability, and this goes hand-in-hand with impulsivity. We will get into this more as well. The rocket sign in a transfer means that when they go to stand up from a chair, it is really quick and abrupt. They will shoot straight up, and then often lose their balance and fall back into the chair. And sometimes, if it is a lightweight chair, it might get out from under them. There are a lot of safety concerns with this population.
- PSP visual symptoms:
- Blurred vision
- Photosensitivity
- Diplopia
- Difficulty reading (impaired downward gaze and convergence insufficiency)
- Slowed saccades
- Square wave jerks
- Blepharospasm and eyelid apraxia
(Golbe, 2014; McFarland & Hess, 2017)
With PSP, you will often see a lot of visual symptoms as well. All of these conditions can have some level of visual disturbance because of the regions of the brain that are affected, but PSP often has the most pronounced. You will typically see some blurred vision and light sensitivity to both bright lights indoors and even sunlight. Double vision is also common. They can have impaired downward gaze or the gaze palsy that is listed. Many times it is a vertical gaze palsy, so looking up and down can be a problem, and down is often more affected than up. Convergence insufficiency can create blurriness and cause them to have a difficult time with reading. Their saccades will be slow or delayed. They may also have square-wave jerks. It looks like the eye is oscillating. Additionally, they can have blepharospasm which is a spasm or twitching of the eye. It almost looks like a tic at the eye. Finally, eyelid apraxia is where the lid will close sometimes, and they may have to physically use their fingers even to try to open the eye.
- PSP mood changes:
- Apathy more than depression
- Disinhibition
- Anxiety, irritability, agitation
- Pseudobulbar affect
(Golbe, 2014; McFarland & Hess, 2017)
We often see mood and cognitive changes as well. In Parkinson's, we typically define conditions as having both motor and non-motor symptoms. Atypical parkinsonism is similar. You will see motor symptoms that affect movement, but you are also going to see mood changes like apathy or depression. I have not noticed as much disinhibition. I had one gentleman that may have had a little of that, but nothing too extreme. I am not sure how much he was disinhibited versus just trying to get some laughs like suddenly taking his shirt off. Anxiety and a panic disorder type presentation with rapid breathing can be present. They may also be very irritable or agitated easily. We sometimes see a pseudobulbar affect where they may cry or laugh inappropriately and out of context for the situation.
- PSP cognitive changes:
- Slowed processing
- Decreased verbal fluency
- Executive dysfunction
- Impulsivity
(Golbe, 2014; McFarland & Hess, 2017)
Cognitive changes, again similar to Parkinson's, includes slowed processing. They also have decreased verbal fluency or trouble finding words for the situation. For executive dysfunction, they have difficulty following steps to a task or performing complex tasks. They may demonstrate impulsivity which is not often understood by family members. They will think the person is just being naughty and trying to walk off without their walker. They get up without thinking.
Atypical parkinsonism-Multiple System Atrophy (MSA)
- Prevalence of 3.4 to 4.9 cases per 100,000
- The median age of onset 58 years
- Mean survival 6 to 10 years
- Two phenotypes: MSA-P, MSA-C
(Golbe, 2014; McFarland & Hess, 2017)
Another one is multiple system atrophy (MSA). It is called this because there are multiple systems in the brain that are affected. You will notice that it is not quite as common. There are roughly three to five cases per 100,000 people with a little younger age of onset. This occurs sometimes in the late 50s. Mean survival is 6 to 10 years. There are two phenotypes that are identified, but I am not going to go into detail with those today. MSA-P has more of a parkinsonism type presentation with slowness, stiffness, and all of those different Parkinson-like symptoms that we talked about in the beginning. MSA-C has more of a cerebellar presentation with an ataxic gait and other cerebellar dysfunction.
- MSA-symptom presentation:
- Orthostatic hypotension
- Urogenital dysfunction
- Pseudobulbar affect
- Dystonia
- Early dysarthria & dysphonia
- Gait and postural instability
- Rapid progression
- Sleep disturbance
- Cognitive dysfunction/dementia
(McFarland & Hess, 2017)
The big symptoms that you will notice with MSA, in general, are orthostatic hypotension. And, if they are lying down, sometimes their blood pressure will spike really high. But then conversely, if they change positions from sitting to standing or from lying to sitting, the blood pressure can drop dramatically. This is often a very common cause of falls, especially during toileting. In women, we typically see urinary retention where they have a hard time emptying their bladder. With men, this can present more in sexual dysfunction. And once again, we start to see as they go through these symptoms, some of the emotional disturbances or pseudobulbar affect. There are also movement changes like dystonia, some dysarthria, and dysphonia. They can have some spastic dysarthria with vocal changes. We see gait and postural instability as well. Once again, these have a rapid progression. Sleep is often disturbed. They will wake often during the night and sometimes have difficulty falling and staying asleep. This can lead to fatigue. When I first started treating these conditions about six years ago, it was thought that MSA did not have as much of a cognitive presentation. But, now we are seeing more and more evidence that there are some cognitive changes and even dementia, especially in the later stages.
Atypical parkinsonism-Corticobasal Degeneration Syndrome (CBD)
- Actual incidence and prevalence is unknown
- Estimated 1 in 100,000, but may be an overestimation
- Onset occurs in the mid-’60s
- Mean survival approximately 7 years from diagnosis
(Chahine, 2014; McFarland & Hess, 2017)
Cortical basal syndrome, or sometimes it is called cortical basal degeneration depending on what source you are looking at, is another complex atypical parkinsonism. We do not actually know the incidence and prevalence of this disease. When I looked through the literature, there was a lot of disagreement. It is estimated to be around one in 100,000, but they think that that may even be an overestimation. The onset is typically in the mid-60s. And, the mean survival is approximately seven years.
- CBD-symptom presentation:
- Marked asymmetric hand dysfunction
- Bradykinesia, tremor, rigidity
- Limb dystonia resulting in contractures
- Myoclonus
- Alien limb phenomenon & ideomotor apraxia
- Limb, hand, gait or speech apraxia
- Language deficits, dysarthria, dysphagia
- Gait abnormality, postural instability & falls
- Dementia (with later progression); semantic memory preserved
(McFarland & Hess, 2017)
It is a pretty rapidly progressing condition. This is one of the harder conditions to wrap your head around because there is a marked asymmetric hand dysfunction. You will see issues with using the hands with a lot of ideomotor apraxia and alien limb phenomenon. I often get people that have been to hand therapy or they have seen OTs where they tried to do strengthening or fine motor coordination training. This is usually really not effective. It is quite hard to work on hand function with these individuals. They do have the bradykinesia, tremor, and rigidity that you typically see in PD. The limb dystonia can often result in contractures so keep an eye on that. You need to make sure that they are maintaining their range of motion. We often also see some myoclonus with this population. They can have apraxia in a limb, in a hand, in their gait, or even in speech. Their language deficits can be pretty broad-ranging too with some dysarthria. They may have difficulty swallowing and dysphasia. We also see a lot of falls, postural instability, and gait issues with these individuals. Dementia has a later progression that tends to hit a little quicker than with PSP, but their semantic memory is preserved. Thus, they can fool people a little bit. People do not recognize how impaired they are, especially family. There can be a lot of education that is involved in making them understand the cognitive issues that they are having.
Atypical parkinsonism -Dementia With Lewy Bodies (DLB)
- 2nd most common form of dementia behind Alzheimer's dementia
- Clinical criteria include: parkinsonism that coincides or follows with dementia; mental status fluctuations; recurrent visual hallucinations
Another one of these conditions is dementia with Lewy bodies. This is the second most common form of dementia after Alzheimer's disease. It is important to note that the National Institute of Neurological Diseases has looked at the criteria for the last few years because of the overlap between Parkinson's disease with dementia and dementia with Lewy bodies. If the dementia is first, that is dementia with Lewy bodies. When we see somebody that starts out with parkinsonism symptoms, and later on they develop dementia, that would be Parkinson's disease with dementia or PDD. These individuals tend to have a lot of fluctuations. This is an important thing for us to know. One day they may seem fine, and then they come in another time to the clinic and their attention, concentration, and their memory has declined. This is important to convey to the family or care partners. They often have recurrent visual hallucinations. My experience has typically been these are not scary for the most part. I had a gentleman yesterday. He said that he will see people working in his yard, and they are not there, but he feels like they even respond when he taps on the glass. Often, they are aware that the hallucinations are not real.
