Could I have Lewy Body Dementia?: by Dr. De Leon

I used to fear that taking medication would change my personality; now i fear that it won’t.” ~David Levy

In the last month and a half I have been dealing with (upper respiratory) infection after infection which have really got me thinking about the causes. Plus the severe dysautonomia which I have experienced recently, being a neurologists, I thought oh my!- this is one of the things that happens and usually the reason (recurrent infections) why people with Lewy body dementia (LBD) succumb to the illness leading to their demise.

I don’t have LBD however, i thought it would be a good time to discuss the clinical presentation of this illness compared to Parkinson’s. Funny thing though, I was commenting this observation with my BFF whom i was traveling with and I said jokingly – “ I know i am not demented” so can’t have that awful disease. She looked at me and responded ‘no not like all the people we have met with disease.’ I gestured in agreement. “but, your personality…” I immediately sat up becoming paranoid, ‘what’s wrong with my personality?’ I asked. She just smiled at me.

Sure I have become more outspoken but that is a factor of my getting older i assume not because of anything organic but just to make sure i had to ask a few people that known me for a long time and the conclusion- i am same crazy, stubborn, energetic, outspoken girl. ( ooh-thank God, what a relief- and don’t ask me to remember cliches because I have always gotten mixed up!)

But unfortunately the reality is that there are too many people out there who do suffer from this terrible disease which is a combination of Parkinson’s and frontal dementia/ Alzheimer’s.  I have seen too many friends and patients spiral down quickly.

So, I would like to talk about what we know about LBD and how we may improve the lives of the patients and caregivers. unfortunately, there is no cure and no specific treatment for this disease as with many other neurological illnesses.

This is the 3rd most common type of dementia affecting ~5% of those older than 75 years of age.

Symptoms which are features of both Alzheimer and Parkinson’s make it a particular challenge in diagnosing. However, the KEY  to diagnosis is the presence of pronounced visual hallucinations, psychiatric overtones and autoimmune problems from day one which then leads to a rapid and pronounced cognitive impairment, along with rigidity, freezing, and severe Rem behavior (often preceding) cognitive symptoms.

Interestingly, Sleep disturbances like REM behavior occurs in about 60% of  parkinson’s patients while an upwards of  80% is seen in MSA ( multi-system atrophy) and LBD.

Most people live on average of 5-8 years after diagnosis but some have lived up to 20 years.

Clinically:  Patients have vacillating or oscillating symptoms fluctuating from near normal to severely abnormal.  These episodes of downward spiral are typically triggered by infection and medications. These patients often have periods where they  return to normal or high function making some people think they are malingering or feigning illness. There is particular variation in cognition; well one day and confused and forgetful the next ..may appear as if doing on purpose which has infuriated and frustrated many a caregiver.  They also exhibit decreased attention, increased sleepiness, and alertness with patterns of normalcy interspersed  with decreased need for sleep, increased alertness and attentiveness. (like a yo-yo and in a step down progression each time rebounding less and less frequently back to normal).

Evolution of disease:

Prominent visual hallucinations, confusion, decreased concentration and alertness, sleep problems followed by apathy, (aphasia) speech impediments, swallowing trouble and paranoid delusion. initial treatment with Namenda makes cognition worse and worsens significantly with dopamine agonists and anticholinergic medications. Frequent falls are common often due to orhtostatic problems and fainting from autonomic dysfunction.

Subsequently, they become very weak developing frequent infections like pneumonia and other immunological infections leading to demise. by this time speech is usually very soft whisper almost inaudible or absent. This is the end stage phase

 

What are the risk factors?

  • older age >60
  • male gender
  • family history of PD or LBD
  • sleep disorder increases risk of  LBD five -fold
  • same risk factors as stroke (HTN, DM, Cholesterol) – linking it to a possible vascular etiology; interestingly not smoking just like in PD it seems to confer a positive benefit- however this does not mean you should take up smoking!
  • strokes
  • low education
  • attention deficit disorder

diagnosis:

  • clinical
  • Dat scan shows low dopamine uptake
  • precision ct scan reveals abnormal uptake in the occipital and parietal lobes

Treatments:

  • This is symptomatic and supportive-treat dementia aggressively with medicines like  Exelon, Aricept or Razadyne.
  • use of antipsychotics like seroquel and clozaril
  • initiate speech therapy early on to improve not only swallowing but also speech and communication; consider feeding tube if necessary as well.
  • PT to prevent falling
  • monitor HTN, sugars
  • prevent infections as much as possible- constant vigilance, get vaccines if needed ahead of time
  • stay hydrated
  • treat with bp meds and orthostatic meds
  • most importantly try to establish a scheduled sleep pattern and use meds to help sleep.
  • discuss end of  life plans, hospice, dNr ( donot resucitate, etc)

@copyright 2017

all rights reserved Maria De Leon

 

Dopa responsive dystonia:diagnosis & treatment – by Dr. De León

This is a topic that is long over due since many of you who have Parkinsonism and dystonia may actually carry this diagnosis. At one time, early on in my clinical presentation, I and my neurologist also entertained this diagnosis as the etiology of my symptoms. DRD – Dopa Responsive Dystonia also known as Segawa syndrome in the recessive form.

This is a diagnosis that is often overlooked especially in childhood and early adulthood when most patients begin to exhibit dystonia as is the case for autosomal dominant DRD (DYT5a) caused by a GTP cyclohydrolase 1 deficiency. this deficiency can also be present in autosonal recessive DRD. Further, this enzyme is important in the production of BH4 (tetrahydrobiopterin) which is the substrate that converts phenelalanine to tyrosine. Tyrosine is the first step in conversion of dopamine.  bh4

In autosomal dominant disease symptoms begin early by age 6 often leading to a common misdiagnosis of cerebral palsy. (can also be the cause spastic paraplegia, early onset of generalized dystonia, and of early childhood parkinsonism very frequently).

One of the key characteristics of this DRD is gait dysfunction which worsen gradually with time but typically stabilizes by the third decade. Also more importantly is the diurnal variation in symptom presentation with symptoms being more pronounced in the evening after a full days activity. Improving with rest and sleep. Hence symptoms are usually significantly better in the morning. Plus the symptoms are exquisitely sensitive to dopa requiring very small doses (25-50mg) a day to control symptoms. Although some children and adolescents may develop dyskinesias with initial low doses of dopamine they always resolve with a lowering of dose and do not return with increasing doses again.

Unlike Parkinson’s, this is not considered a neurodegenerative disorder rather a metabolic abnormality. Typical symptoms include uncoordinated, clumsy gait something I had all my life. I lived my childhood with scraped knees and torn tights/leggins. Plus these patients are born with with club feet something I also had which required casting for my entire first year of life. So symptoms begin in lower extremities then migrate over time to involve upper extremities bilateral..again something I had. So of course this was high on list of suspects.

In general patients progress to develop generalized dystonia- I don’t have this. Furthermore, although some depression and sleep disturbances can occur with this syndrome, DRP patients do not exhibit autonomic dysfunction, intellectual, or sensory problems (common of PD) nor cerebellar disturbances (which are common of parkinson’s plus syndromes like MSA).

Rarely, these patients develop symptoms in adulthood instead in which case parkinsonism is the predominant feature rather than dystonia. unlike childhood onset these do not have a diurnal variation. But, on the plus side the movement disorder progresses extremely slow.

Diagnosis: ( I underwent genetic testing and had normal levels of these enzymes but did have an abnormality in another enzyme – which i have to find – of unclear etiology. Hence i am listed as rare cause of PD/dystonia at NIH)

  • as always a good history is a MUST! personal and family.
  • Genetic testing – as i did-look at DYT5 (dominant-GTPH1); look at tyrosine hydroxylase –TH deficiency (recessive)- this enzyme is the limiting factor in the pathway production of dopamine*; sepiapterin deficiency (both autosomal &dominant in children)
  • Mri’s of brain/dat scan normal-there is NORMAL uptake of dopamine
  • Spinal tap and look at CSF enzyme levels
  • blood and urine tests
  • sometimes muscle biopsies ( i almost had)

Although there is still much we don’t know about this illness especially since it has variation in presentation depending on age as well as enzyme involved and penetrance of gene (having the abnormality does not guaranty disease like many other neurological illnesses).- some even think there may be a DRD plus syndrome. Note_ so unless there are symptoms, there is no need to go fishing for genetic testing that might show abnormality that may never develop into anything.

Treatment is symptomatic with mainstay treatment being Levodopa! most patients do well with a dose between 200-400mg a day of levodopa.

In extremely rare cases there have been reports of patients having both DRD and PD- could I be one ? after a decade my dopamine dose remains low compared to my counterparts with same years of illness however, i also need many other dopamine agonists and MAO inhibitors to function ..so i guess time will tell especially if NIH ever links other illnesses to my rare enzyme deficiency.

Find a Movement disorder specialist whom you can talk and listens to you and follow up routinely. Patients have done well with low dopamine for more than 2 decades. want to prevent contractions so PT and OT are crucial. this may also involve treatment with botox and centrally acting muscle relaxants like baclofen, dantrolene or baclofen pump. As well as rest to replenish dopamine.

SOURCES:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061475/

http://emedicine.medscape.com/article/1181084-overview

https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia

 

Copyright@2017

All rights reserved Maria De Leon

 

 

Tardive dyskinesia’s: By Dr. De Leon

  • Today, I want to discuss a movement disorder on the rise due to increase use of neuroleptics and new indications for dopamine antagonists have increased over the years thus increasing the number of patients at risk. Also because some of the initial symptoms of this condition are acute extrapyramidal symptoms (EPS) like stiffness, slowness, and tremors; if not caught early can lead to full blown tardive dyskenesias (TD) or be inappropriately diagnosed as parkinsonism or Parkinson’s plus syndrome (e.g. multisystem atrophy) causing undue disability and frustration among patients and clinicians alike.

 

The most common symptoms of tardive dyskinesia are: occur after EPS

  • Grimacing
  • Tongue protrusion
  • Lip smacking
  • Puckering and pursing
  • Rapid eye blinking
  • Rapid movements of the arms
  • Rapid movements of the legs
  • Rapid movements of the trunk

First of all, tardive means late dyskinesia’s. These are abnormal involuntary undulating movement s often involving the face but can be seen in other parts of the body such as the extremities and trunk.

Why is it important to know about tardive dyskinesias? These are not to be confused with dyskinesias seen in Parkinson’s as I stated above but rather a secondary effect of long term dopamine replacement.

As the name implies these abnormal movements occur late after a prolonged exposure to dopamine antagonists ( blockers) such as anti -psychotics (particularly older)- e.g. Haldol; anti- nausea medicines- e.g. Reglan; anti-depressants- e.g. respideral. certain groups are already at higher risk like those with mental illnesses such as schizophrenia, cognitive or mood disorders  as well as those who are diabetic, have alcohol use or are immunodeficient, and/or  elderly. The risk goes up from ~13% to 50% with age and prolonged use of these medications.

of note: dyskinesias can appear after stopping medications which cause this and may even disappear weeks later. These are known as withdrawal dyskinesias.

 

Conditions resembling TD:

  • oral movements from ill fitting dentures
  • autism
  • chronic motor tics
  • Huntington’s chorea
  • restless leg syndrome
  • Tourette’s
  • Wilson disease – disorder of copper regulation
  • senile chorea (old age)
  • Meige’s syndrome ( face dystonia )
  • drug induced
  • Sydenham chorea ( associated with rheumatic fever)

 

Even in routine careful examination TD may be difficult to detect early by non specialists especially if a good history not taken. this is due to fact that agents causing problem can also mask the symptoms. doctors use a scale AIMS- abnormal involuntary movement scale

Usually is family that bring movements to attention of doctor!!!

Because in many cases people have been left with life long abnormal movements we must minimize the occurrence by minimizing drugs that are dopamine blockers and if needed using lower doses and shorter periods of time. Treat as quickly after it appears!

Treatments:

  • Tetrabenazine
  • reserpine
  • melatonin
  • donepezil ( Aricept)
  • vitaminB6
  • vitamin E
  • Valbenazine (should be available soon- better efficacy and tolerability than any to date)
  • AMANTADINE has no PLACE here…

Parkinson’s dyskinesias  on the other hand are due to prolonged use and exposure of dopamine agonists.  The best way to treat and diagnose these are keeping a diary of when abnormal involuntary undulating movements occur at peak dose, at onset, or at end of dose.

Time if they are predictable or random? as well as duration? are they painful?

Treatments for PD dyskinesia:

  1. prevent by using smaller doses and multiple mechanisms of action ( i.e. MAO inhibitor + dopamine agonist + levodopa)
  2. adjust medications i.e. shorten/ increase frequency of medications
  3. add amantadine ( shortly should have a new formulation of amantadine available to add to our armamentarium of drugs- Key treatment
  4. DBS  ( deep brain stimulation) is the gold standard treatment- discuss elsewhere in my blog.

When in doubt as to kind of movement disorder you have take a video and go see your MDS/neurologists ASAP many treatments are available.

 

As a side note: I would like to thank all of my readers and followers for making this blog one of your favorites as well as one of the top 50 blogs in topic of PD. could not do it without your love and support. Many blessings and Happy Valentine’s Day! ❤ ❤

 

 

Tardive Syndromes- Tardive dystonia, Parkinsonism, and Other Movement Disorders: By Dr. De Leon

What is a Tardive (late) Dyskinesia?

This is a persistent, at times irreversible, abnormal involuntary movement disorder appearing after a prolonged (usually 1-2 years) or extensive intake of dopamine antagonist (blockers) such as old traditional neuroleptics. Prior to onset of atypical antipsychotics like Seroquel, there was a slew of elder patients in nursing homes and mental facilities with tardive dyskinesias mainly due to antipsychotics like Haldol (usually referred as Vitamin H among health professionals). They can develop in the course of treatment (at least 3 months), after dose reduction, or even after the causative drug has been withdrawn. Stopping or decreasing dopamine blockers causes tardive dyskinesias in about 40% of people previously asymptomatic.

These movements usually present as hyperkinesias (excessive movement) involving the trunk, limbs and orofacial muscles. Exposure to these drugs can reproduce any of the involuntary movements that are hyperkinetic inn nature such as chorea, dystonia, myoclonus, tics, and tremors. Tardive dyskinesias is a generic form used to refer to all these syndromes. But a more restrictive syndrome of involuntary movement of face and mouth (buccolingual masticatory syndrome) also seen in older patients with maladjusted /poor fitting dentition-was the first type of tardive dyskinesia ever written about. Patients look like they are constantly chewing or ruminating. This involves the tongue twisting, persistent protrusion of tongue with lip smacking, puckering and chewing motions. Sometimes may be accompanied by trunk swaying, rocking movements and pelvic trusts. while standing in place these individuals tend to pace or march in place or shift their weight from one leg to another. in addition these patients exhibit moaning and grunting as well as abnormal breathing patterns causing frequent referral to pulmonary and cardiac specialists. They often have respiratory dyskinesias (arrhythmic breathing, deep inspirations and fast breathing).

An unusual clinical manifestation of tardive dyskinesia is a painful sensation in the oral and genital region.

Drug Induced Dyskinesias:

  • Lithium-Parkinsonism
  • Dilantin (phenytoin-with high or normal levels)- disappear with dose reduction or withdrawal- causes chorea, other movements are dystonia, ballismus, tremor, asterixis, and myoclonus.
  • Tegretol (carbamazepine)-tics (vocal and motor)in children and dystonia in brain damaged children.
  • Tricyclic antidepressants ( Elavil, imipramine)- either acute intoxication or after chronic use. 1) Acute abnormal movements are tremors, myoclonus, choreathetosis.2) Chronic use leads to chorea. Symptoms stop with drug cessation.
  • Fluoxetine-myoclonus
  • B-adrenergic drugs used for respiratory disease ( like albuterol, terbutaline) cause tremors.
  • oral contraceptives– can cause chorea
  • calcium channel blockers- (e.g. verapamil, Norvasc)- can cause parkinsonism, and acute dystonia
  • reserpine- parkinsonism
  • tetrabenazine-parkinsonism
  • Antiemetics-metoclopramide, Phenergan-parkinsonism, chorea, dystonia.

Risk factors:

  1. old age
  2. female gender
  3. mentally impaired
  4. duration of illness
  5. length of drug exposure
  6. cumulative drug exposure
  7. history of mood disorder
  8. diabetes (2x greater risk)
  9. structural brain abnormalities
  10. history of electroconvulsive therapy
  11. early side effects like parkinsonism

Risk factors for acute dystonia:

  • male gender (2:1)
  • younger than 30
  • high dose of neuroleptic
  • potency of drug
  • underlying psychiatric disorder like schizophrenia
  • family predisposition

Akathisia (restlessness-feelings of inner tension causing patients to shift positions continuously); frequently misdiagnosed as anxiety. Caused by prolonged exposure to dopamine blockers.

Treatment:

  • reserpine
  • tetrabenazine
  • clozapine
  • tardive dystonias requires a combined approach with levodopa and anticholinergics; clonazepam (klonopin)

If you are on any of these medications and have movement disorder follow up with an MDS or if your current symptoms have worsen and are on one of these meds make sure you follow up immediately.

 

 

 

An Overview of Syndromes with Dementia & Parkinson’s – Diagnosis, Treatment & Prognosis. By Dr. De Leon

There has been much speculation since actor Robin Williams died regarding the circumstances that led to his demise.  Many wonder whether his neurological disease Lewy Body Dementia (LBD) diagnosed only after autopsy triggered his suicide.  One will never know for certain what drove this brilliantly talented man to the edge of desperation putting an end to his own life.

However, because of the tragic loss of such beloved celebrity who initially had been given a diagnosis of PD while living only to confirm  another less common disease LBD after his death,  the question still lingers in everyone’s mind could they or their loved ones be afflicted with such  disease and not know it?- such a strange word for so many…

Thus, I would like to discuss the topic of dementia in its various forms and its relation to Parkinson’s disease.

First, I would like  to put everything in perspective- dementia is defined as loss of previously acquired cognitive skills including language and complex motor skills, of which Alzheimer’s is by far the most common type affecting well over 5 million American or about 1/9 patients 65 or older.

Dementia is then subdivided in to cortical (pertaining to higher-cerebral- cortex and cognitive function such as memory and language) and subcortical (involving the structures ‘underneath’ the cerebral cortex –i.e. the connections between the different lobes). Subcortical dementia is a clinical syndrome characterized by mental slowness, depression, apathy, impaired cognition and forgetfulness.

Unlike Alzheimer’s (cortical dementia) where there is an actual loss of neurons- in Parkinson’s dementia since it’s a subcortical dementia, the neurons are preserved only the chemicals are diminished, and the wiring is faulty making retrieval cumbersome and slow. In Alzheimer’s, as in other forms of cortical dementia, the information once lost is gone- reason why giving cues does not help to remember as it does for those suffering subcortical dementia where Parkinson’s dementia is the prototype.  Therefore, in subcortical dementias like  seen in Parkinson’s the possibility exists of being able to create new pathways between the various structures of the brain thus potentially thwarting the progression nor severity of disease.  this is why it is EXTREMELY important to obtain early diagnosis by a neurologists because although there is no cure for dementia of any type subcortical ones can be slowed down significantly or halted if correct diagnosis is given and treatment started early. One of the biggest therapeutic advantages to a better prognosis and quality of life is the institution of non-traditional modalities such as exercise and art therapy in addition to traditional treatments.

Some neurologists / movement disorder specialist including myself believe there is a spectrum of disease in which you have Alzheimer’s on one end of the spectrum with Parkinson’s at the other end  …with about 2 million people. Then you can have as many diseases as you can think of with various combinations ..including all the Parkinson’s plus syndromes (MSA, PSP, etc. closer to PD) & dementia syndromes like Fronto-temporal dementia, pick’s disease, etc.

Alzheimer’s

Parkinson’s

Lewy body dementia lies at the crux of the see-saw smack down the middle. Then there are those rare patients who also truly have BOTH Parkinson’s and Alzheimer’s but those are even more rare. The reality is that many patients have mixed symptoms most frequently due to vascular disease. This is why it is imperative to ALWAYS have a brain scan at onset of diagnosis or if things don’t match up. More PD patients are in fact more likely to have a variation of Parkinson’s and vascular dementia then Alzheimer’s or other PD Syndromes. This is because most Alzheimer patients are typically otherwise extremely healthy and have no other risk factors while (thus usually look normal in appearance and mannerism at presentation) those with Parkinson’s disease can have and usually do have other illnesses including risks for stroke ( which I believe is greatly enhanced by medication effect especially in woman as a study of PD women showed higher incidence of stroke compared to men- most likely due to uncontrolled hypertension caused by dopamine and dopamine agonists).

So how do you diagnose?-

First, we must remember that of all the dementias, Alzheimer’s is by far the most common followed by vascular dementia caused by strokes. Of course by far Parkinson’s is the more common of the movement disorders second only to essential tremors. After understanding of this knowledge, it is both a matter of recognition of patterns (comes only through extensive training and years of seeing patients in a particular field- hence need for neurologists/MDS) and a numbers game in diagnosing- meaning that common things happen commonly. Yet, a GOOD NEUROLOGISTS ALWAYS HAS THE RARE DISEASES IN THE BACK OF THEIR MIND when things are not presenting, progressing or responding as they should!

Second, listening to the patient and taking a good history is key which means that you as a patient or caregiver MUST try to give as concise and detailed account as possible of symptoms including timeline –

  • what came first?
  • how long and far between onset of other symptoms?
  • are symptoms rapidly progressing?
  • are they progressing in a step like manner – meaning worsening then plateauing then declining again?

Third, equally important, especially when symptoms are very early and unclear, is to have continuity of care by same doctor for several months until picture is cleared- sometimes unfortunately we become impatient and want to know what is wrong with us so desperately that we jump from doctor to doctor giving them only a glimpse into the real pathology. Thus, each doctor only sees just one moment in time instead of the whole picture making diagnosis more difficult for any one person until it becomes so obvious. However, by the time it is easy to diagnose even by none experts frequently so much time has been lost that treatments may be ineffective due to advancing disease ultimately robbing us of not only our peace of mind but also diminishing our quality of life.

Characteristics of common dementias with/without Parkinson’s:

Alzheimer’s disease is loss  of speech& language, along with memory loss. Immediate or recent memory is impaired while remote memory is preserved. Patient’s usually  get lost in familiar places, do not recognize familiar faces, experience loss of previously acquired skills- complex motor skills. Initial presentation includes loss of smell, irritability, depression, personality changes, and apathy. Withdrawal is a common presenting characteristics along with fender benders  – these patients ARE NOT hallucinating when they first present. If diagnosed earl, they respond well to acetylcholinesterase inhibitor (e.g. Aricept, Razadyne, Exelon) and Namenda (Memantine) which can not only improve quality of life but delay hospitalization into a facility. It is a chronic progressive disease which occurs over 20-30 years. The incidence increases with age- although not typically hereditary there are two Alzheimer’s genes which are familial Presenilin 1 & 2. Risks of developing ALZHEIMER’S are illiteracy, low education, low socioeconomics, and lack of exercise, high blood pressure and diabetes.

 

 

 

Lewy body dementia – main characteristic is hallucinations (e.g. auditory, olfactory, visual, tactile, and gustatory) at the onset of disease, along with vivid dreaming, severe REM behavior, and early visuospatial impairment in absence of memory loss along with stiffness, slowness, marked bowel, & bladder problems. The key is that introduction to dopamine agonists and dopamine exacerbates or brings to the forefront the hallucinations. Also Namenda usually given for dementia /Alzheimer’s will worsen symptoms of hallucination, becoming psychotic delusional and extremely agitated.  However, other memory medicines can improve quality of life. Incidence of LBD is. 21/100,000.  This type of illness is a rapidly progressive disease 5-8 years. More common in men 4 to 1 usually in their 70’s.

 

Fronto-Temporal dementia a.k.a. Pick’s disease– they have significant behavioral and personality changes, interpersonal relationships, including language disturbances and alterations in muscle/motor function. They are caused by disorders involving the protein called TDP43  or the tau protein– why the lobe frontal lobe no one really knows. They usually occur in the 50’s and 60’s however some people may develop as early as their 20’s or as late as their 80’s.  there is a behavior variant  and a language variant. both the behavioral variant and the language variant are much less common than Alzheimer’s disease in those over 65 years of age. However, in the 45-65 year range both of these are as common as young onset Alzheimer’s.  Currently it is estimated that around 60,000 people have FTD the majority of whom are in the young age group. the thing that will distinguish Alzheimer’s and FTD is progression and genetic abnormalities. However,what is interesting is the fact that within the realm of  FTD’s we have PSP (Progressive Supranuclear Palsy) and CBGD.

  •  CBGD (corticobasal ganglionic degeneration) presentation includes more personality and behavior changes at the beginning of disease like FTD’s, even in absence of memory loss. Patients have trouble producing and comprehending language. Both of these have a quick rapid progression. FTD is closer to Alzheimer’s so no PD symptoms unlike CBGD which commonly is unilateral (even when it becomes bilateral there is an obvious dominance); has alien hand. Typical duration of CBGD is 6 years. Patients with CBGD usually are between 50- 70 years of age and it comprises about 1% of population. Tremors, rigidity, muscle spasm, involuntary eyelid spasm, sensory loss, significant swallowing difficulty are also part of the presentation and clinical picture. There is no good treatment  for these patients; they poor response to both Alzheimer’s drugs and to PD meds because they have both cortical and subcortical dementia. The best treatment especially early on is speech  and physical therapy ; when started early in disease process it can significantly improve quality of life particularly since dysphasia and dysarthria (slurred speech) are early signs leading to frequent aspiration and aspiration pneumonias.  These patients also have significant apraxia – this is the inability to perform purposeful movements especially when asked such as making an “okay” sign with your hands.

 

  • PSP-a.k.a.- Steele-Richardson-Olswenski syndrome- progressive supranuclear palsy-initial symptom in 2/3 of cases is loss of balance , difficulty walking-fast walking bumping into objects or people, and changes in posture- lunging forward when mobilizing. the other common early signs include general slowing of movement, change in personality and visual symptoms due to restricted eye movements especially in the vertical plane-because they can look down very well people fall frequently because cant see especially when stepping off a curb or are increasingly messy when eating because can’t see the food. Later dementia develops affecting loss of inhibition  and difficulty organizing information. They also have  muscle stiffness, swallowing difficulty (usually cause of demise), slurring of speech. Men and women affected equally, about 6/100,000. A poor response to dopamine along with symmetrical onset is the big CLUE along with abnormal eye function which includes eyelid apraxia.

Parkinson’s dementia -early presentation is classic Parkinson’s symptoms which include tremors, slowness, stiffness, and gait impairment; only after 10 plus years do patients get dementia of PD which occurs in up to 50% of individuals. – These patients respond well to PD meds and to acetylcholinesterase inhibitors as well as to Namenda. Exelon works great as do combination of Aricept and Namenda extended release or short acting (now in single formulary called Namzaric). Treatment at early signs is key preceded by adjustment of dopamine levels because the brain is also a muscle and just like the muscles get stiff and slow due to lack of dopamine so does the brain resulting in slow retrieval and weak connections- sometimes all it needs is an extra kick dose of dopamine. Presentation is usually depression, apathy and forgetfulness which is remedied by giving cues. Hallucinations do not occur until late stage and typically are visual. Most visual hallucinations in advance stages are usually benign. A common theme is that of children which typically do not require medication.

Recommended treatment for PD dementia with antipsychotics like Seroquel or Clozaril only if hallucinations are frightening or interfering with care or activities of daily living but first recommend adjusting PD doses then adding acetyl cholinesterase inhibitor if not better then antipsychotic as last result. I recommend that if there is question of memory problems talk to your doctor ASAP and obtain a neuropsych evaluation if necessary which will point to type of dementia cortical/subcortical or both? If have any memory problems or problems with speech, language, gait, coordination, tremors, stiffness or slowness seek first attention of a neurologist who can assess whether a movement disorder specialist is needed.

In summary, knowing the facts will aid in early detection and treatment. In order to achieve this we must be proactive and practice self advocacy because after -all no one knows your capabilities better than you or your spouse/partner so don’t delay seeking medical attention from a NEUROLOGIST if you or loved one have any of these symptoms or have family history of cognitive problems. Plus, do not forget to exercise at least 15 minute walk 3x a day  because can significantly decrease risk of Alzheimer’s dementia especially in women. It may also possibly improve or decrease risk of those with subcortical dementia’s like PD involving basal ganglia by increasing blood and oxygen perfusion to this area.  Also because the brain is a muscle we must remember that if we don’t use it atrophies. Therefore, the more you stimulate it and challenge it the more connections it will develop and the lower the risk for getting dementias of any type.

     So as we approach anew year make a resolution to Go ahead learn a new language, travel more, take up a new hobby, play with your grandkids, and socialize with your friends outside of social media. These things will not cure our illnesses or prevent us from getting them in the first place but can greatly shift the balance to our favor by decreasing risk of becoming severely cognitively impaired.

I have Dystonia! Now, what? : by Dr. De Leon

First, dystonia which falls under the umbrella of the movement disorders diseases implies an abnormal contraction of the muscles that causes involuntary twisting resulting in abnormal postures. It can be painful. Some common known dystonia are writer’s cramp-a type of dystonia that occurs only while writing affecting the muscles of the hand and forearm.

Dystonia is a symptom like a cough, or nausea. We need to know the cause. It can be a primary disease such as dopa responsive dystonia (DRD),  or dystonia muscularoum deformans (also known as Openheimer’s syndrome or torsion dystonia-DYTI ).

All primary dystonias are caused by some type of genetic abnormality. Dystonia can also be  part of another neurological disease; this type is  known as secondary dystonia.

Secondary dystonia or acquired causes:

  • Strokes (CVA’s)
  • Multiple Sclerosis
  • brain tumors
  • seizures
  • carbon monoxide poisoning
  • infection
  • oxygen deprivation- e.g. strokes
  • brain trauma
  • birth injury ( some people think cerebral palsy fall into this category)
  • Huntington’s
  • heavy metal poisoning
  • Wilson’s
  • drug interactions ( side effects) usually to antipsychotics after long use
  • drug use,
  • Parkinson’s.

It can affect any muscle of the body.  The dystonia can be:

  • Focal – affect one specific body part e.g. writer’s cramp, cramp with piano playing.
  • Generalized- all or most body parts
  • Multifocal- several unrelated body parts
  • Segmental –adjacent body parts like torticollis.
  • hemidystonia –arm and leg on the same side In Parkinson’s disease it is usually more commonly seen as a side effect of levodopa  when wearing off and can look like any of the above.

Typically Parkinson’s patients experience focal or hemidystonia. In YOPD it is not uncommon to see dystonia as one of the presenting symptoms again it can be focal, hemidystonia, and occasionally segmental. Unfortunately sometimes dystonia can remain the most prominent feature for years before other motor pd symptoms to develop. But, during this time persons with YOPD should have other non-motor symptoms developing. I have seen patients treated with focal dystonia for 6 years only to see signs of PD in the 7th year. With time DRD develops pd symptoms sometimes confounding picture for those not so well versed in the field erroneously labeling Parkinson’s when in fact is primary dystonia with secondary parkinsonism. The treatment unfortunately is the same but the prognosis is quite different. One being static or mildly progressive while the other one will have a progressive neurodegenerative course (PD). DRD can be controlled with large doses of dopamine while the other initially maybe controlled but will eventually lead to dyskenesias. Independent of whether dystonia is primary or secondary’s the treatment armamentarium is essentially the same. The basic principle is finding an underlying treatable cause such can reverse the symptoms if not is back to symptomatic control. In the case of Parkinson’s is really as much an art as it is a science in being able to adjust the Parkinson’s medications. This is where open communication between a doctor and patient come in handy to pinpoint exactly if the dystonia is being caused by wearing off, end of dose, or a biphasic response!

Symptoms of dystonia:

  • A “dragging leg”
  • Cramping of the foot
  • Involuntary pulling of the neck- a.k.a. spasmodic torticollis or cervical dystonia
  • Uncontrollable blinking a.k.a. blepharospasm
  • Speech difficulties- a.k.a. spasmodic dysphonia – 2 types adductor & abductor. Adductor is by far the most common and responds best to botox injections (no anesthesia needed only feel a prick through front of neck). Adductor dysphonia voice sounds strangled or strained because the vocal cords are so stiff it is difficult to produce sounds this is what it is typically seen with PD; but normal while laughing, crying or shouting. In abductor dysphonia, the voice involuntarily sounds like a whisper when attempting to talk. Botox is also used for this- more complicated has to be given into actual vocal cord muscles.

All dystonias, as all  other movement disorders, get worst during stress and fatigue!

Treatments for dystonia:

  • Medications oral: baclofen, Valium, xanax, klonopin, neurontin, dantrolene, levodopa,tetrabenazine
  • Medications injectable: botox (there are several types including disport), baclofen pump; e.g. botox works great for spasmodic dysphonia
  • Surgeries: DBS, thallomotomies, pallidotomies, ramisectomy and rhizotomies (spinal nerves are cut in order to relieve pain), pheripheral deenervation (cutting nerves in pheripheal nervous system), myectomies (taking out a portion of muscle), myotomy (dissecting the muscles).
  • Ancillary treatments: PT, OT, ST, adaptive equipment-e.g. orthotics, leg braces
  • Sensory tricks: stimulation applied to affected muscles or muscles nearby people can reduce and control their own contractions.   This man is touching back of his neck as a sensory trick to keep from going back.
  • Non-medical treatments: massage, acupuncture, behavioral therapy (biofeedback), yoga.

In the hands of a skilled and knowledgeable specialist all dystonias should be able to be controlled providing the person living with this condition, whether it is a symptom of something else or a syndrome itself, a good quality of life since we now have so many treatment options. However, most dystonias unless related to medication side effects or are focal in nature (except spasmodic dysphonia which require ENT specialist to do injections) will require a team approach (ancillary services, MDs, neurosurgeon, pain specialist, orthopedist, massage therapist) and a combination of therapeutic modalities to achieve the best possible outcome. These treatments should be accompanied along a life style in which sleep is given priority and methods of stress relief are integrated into everyday life to maximize benefit.

In order to properly diagnose and decide proper treatment need to be seen by a movement disorder specialist (MDS). He or she will run blood test (which may include genetic testing), imaging test (CT/MRI Brain) along with a detail neurological exam to find the cause.

Sources:

webmd.com› … › Brain & Nervous System Health Center

https://www.dystonia-foundation.org