47M with Uncontrolled Hand Movements
NOTE: THIS IS AN ONLINE E LOGBOOK TO DISCUSS OUR PATIENT'S DE-IDENTIFIED HEALTH DATA SHARED AFTER TAKING HIS/HER GUARDIAN'S SIGNED INFORMED CONSENT. HERE WE DISCUSS OUR INDIVIDUAL PATIENT'S PROBLEMS THROUGH A SERIES OF INPUTS FROM THE AVAILABLE GLOBAL ONLINE COMMUNITY OF EXPERTS INTENDING TO SOLVE THOSE CLINICAL PROBLEMS WITH COLLECTIVE CURRENT BEST EVIDENCE-BASED INPUT.
The patient presented with chief complaints of
- uncontrolled movements in fingers and toes since 3-4 years.
- Inability to talk properly since 3 years
- Difficulty in swallowing since 2 years
- Urinary incontinence
HISTORY OF PRESENTING ILLNESS:
These movements used to occur 1-2 times a day in the beginning, now increased to 5-6 times a day. The severity and frequency seem to be increasing day by day. Movements were also present in his sleep. There is no weakness or loss of grip when these movements occur. No triggers, no relieving factors.
The movements in his fingers were clearly seen when he was walking.
Complains of water leaking out of his nose while drinking.
HISTORY OF PAST ILLNESS:
Not a k/c/o DM, HTN, Asthma, Epilepsy
Episodes of rectal hemorrhoids since 7 years
PERSONAL HISTORY:
Alcohol - drinks occasionally
Smoking - 1-2 cigarettes/day
FAMILY HISTORY:
Link to sister's blog: https://96sanjanapalakodeti.blogspot.com/2022/09/53f-with-uncontrolled-hand-movements.html
EXAMINATION:
Tests done today (23 Sep):
- Tremors - High amplitude, low frequency; No triggers; No aggravating/relieving factors
- Slurring of speech observed
- Cerebellar signs
- Titubation - Not observed
- Gait/stance ataxia - Not observed
- Nystagmus - Not observed
- Dysarthria - Not observed
- Hypotonia - Not observed
- Rebound phenomenon - Positive
- Intention tremor -
- Pendular knee jerk -
- Tandem walking - Not observed
- Finger nose test - Slight hypometria observed
- Drawing a circle - Normal
- Knee heel test - The patient was unable to do it
- Dysdiadokokinesia - Not observed
- Patient was instructed to say 'ma', 'ba', 'pa', 'ta', 'da', 'la', 'ka', 'gha' and was able to repeat it without difficulty
- Weak raising of the palate when instructed to say 'AAA'
- MMSE - 26 (language barrier to be considered)
DISCUSSION:
There is a disagreement on whether his movements are choreatic or athetoid.
Family history shows an aunt whose genetic testing was done that revealed possible Huntingtons.
We consulted with a geneticist Dr. A. H. who suggested that we test for HD, SCA types 1, 3, and 12. There was also a discussion on how there was a possibility of 2 genetic disorders running in the family, though it is rarely seen. 2ml EDTA blood samples of both the patients (brother and sister) were sent for testing.
It was decided that based on the results, the rest of the family members could be counseled. It was stated that if a defect was seen in SCA1 or SCA12, preventive measures can be taken to decrease the severity of the symptoms in future generations (?).
CONVERSATIONAL LEARNING:
Dr Sanjana:
We've done these tests till now
Tremors - High amplitude, low frequency; No triggers; No aggravating/relieving factors
Slurring of speech observed
Cerebellar signs
Titubation - Not observed
Gait/stance ataxia - Not observed
Nystagmus - Not observed
Dysarthria - Not observed
Hypotonia - Not observed
Rebound phenomenon - Positive
Intention tremor -
Pendular knee jerk -
Tandem walking - Not observed
Finger nose test - Slight hypometria observed
Drawing a circle - Normal
Knee heel test - The patient was unable to do it
Dysdiadokokinesia - Not observed
Patient was instructed to say 'ma', 'ba', 'pa', 'ta', 'da', 'la', 'ka', 'gha' and was able to repeat it without difficulty
Weak raising of the palate when instructed to say 'AAA'
MMSE - 26 (language barrier to be considered)
Dr. Rakesh Biswas: Well done 👏 By the nature of the slurring can you tell if it's spastic dysarthria or cerebellar speech.
Dr. Sanjana: I personally think it's cerebellar sir (scanning speech)
@Amili will be able to tell us about that more accurately as she primarily communicated with him.
Cerebellar speech:
Spastic dysarthria:
@Amili which one do you think his speech resembled the most?
Dr. Amili: Yes ma'am, the patient has speech resembling that of the cerebellar speech video link. Although I would also like to mention that he did not speak as slowly as that shown in the video. There were times where he struggled to pronounce some words and a slight bit of slurring was observed.
Dr. Rakesh Biswas: @Amili What anatomical areas do you think are currently involved in the 47M patient under discussion based on the physiological parameters you have with you now as a result of the detailed examination findings shared above
Dr. Souraja: Sir, we have specific nuclei in the basal ganglia, the caudate. The degeneration of this nucleus will cause huntington.. Also the levels of GABA decreases.
Since GABA is an inhibitory neurotransmitter, the excitatory impulse overrules and person has chorea and involuntary movements in eye and speech slurring
Dr. Amili: Sir, after reviewing the list of physiological parameters that are currently present, I have come to the following observations:-
1.)Due to presence of tremors, the spinomotor system can be involved
2.)The patient has complained about the inability of retention of urine for long periods of time, thereby indicating slight disturbance in the centre responsible for micturation i.e. the Pontine micturition center(PMC), which is located in the medial dorsal pons.
3.) Cerebellar speech is observed... Due to the slurring although there is no slowness of speech observed, which indicates that the extrapyramidal tracts are not involved.
4.)There is also unsteadiness in his gait that has been observed, which is accompanied with swaying from side to side occasionally and his inability to negotiate narrow pathways, which further proves that the cerebellum is being involved
.
Dr. Amili: So, based on his gait (which I would describe as Trunkal Ataxia as it is quite staggered), I can say that the archicerebellum involvement is there, but I am guessing there is more involvement of the neocerebellum seen due to the following observations:-
1.) The patient does seem to have Dysmetria because he seemed to have difficulty in performing the finger nose test
2.) Dysarthria, due to his slurred speech.
Dr. Sanjana: Patient also mentions difficultly in getting up from chair and out of bed, so truncal ataxia is very probable
Dr. Rakesh Biswas: So now if you check out the other case report of Huntington's similar to our current patient you may realize that Huntington's may involve other locations in the brain too. @Souraja @Amili What is the tone and reflexes that you examined in this patient? Can a patient having ataxia walk tandem as we demonstrated outside Dhanwantari yesterday? @Sanjana Palakodeti @Souraja We need the deidentified videos of this patient's reflexes as well as gait, including tandem along with the dysmetria. Check out normal and abnormal CNS examination videos in YouTube and you will know how to take yours and upload it in a similar manner and then share the links here as well as in the 47M case report
Dr. Amili: Sir, from what me and @Sanjana Palakodeti have examined so far yesterday, we have found that the muscle tone in both the upper and lower limbs is normal. We have also examined the jaw reflex as well as the knee jerk reflex. The knee jerk reflex seemed to be normal although we both noted that it was slightly exaggerated. So it has been noted to retest that. There is no jaw reflex that was noticed so we thought of retesting that too.
Sir, based on this video I don't think that a patient having ataxia can walk tandem to as was demonstrated outside Dhanwantari yesterday
Dr. Rakesh Biswas: So what is our patient's gait like? How do we classify it? Can we call it spastic gait? Check that out too and would be great if someone can share the gait video of our patient
Dr. Amili:
Sir for rewatching the patient video which was posted here, I don't think we can call this spastic gait cuz there is no "scissoring" that has been observed so far... The key pointers that I have noticed so far after being with this patient are:-
1) he seems to have difficulty when he is asked to walk in a straight line. (Can't seem to cross his legs)
2) his fingers sometimes flex and extend while he is walking
3) The patient did also mention his toes also contracting at times when he is walking although that has not been observed in real life nor on video so far
4) also it is staggered
CONVERSATION 2:
Based on this article, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039467/, a neurostimulation is being considered.
