47M with Uncontrolled Hand Movements

E-LOGS MEDICINE

3 April, 2023

Hi, I am Arefin Sadat, a final-year MBBS student. This is an E-Log that depicts the patient-centred approach to learning medicine. This E-Log has been created after taking consent from the patient and their relatives. The links that were used by me for understanding the available data on the particular disease have been mentioned below in each post. I hope you learn valuable information after giving it a good read.

This case report was previously done by Dr. Sanjana Palakodeti, the link is attached here: 

https://96sanjanapalakodeti.blogspot.com/2022/09/47m-with-uncontrolled-hand-movements.html 

I am going to update the case report with all recent updates and clinical images of the patient.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:

https://youtu.be/Xvx2sONPKUY

Spastic dysarthria:

https://youtu.be/EHNSBo3SsmY

@⁨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.

https://youtu.be/JSyLnt3rLxs

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: 

https://stanfordmedicine25.stanford.edu/the25/gait.html

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

CDSS: 

9/27/22, 2:14 PM - Souraja 2k20: VID-20220927-WA0028.mp4 (file attached)

Knee reflex

9/27/22, 2:15 PM - Souraja 2k20: VID-20220927-WA0029.mp4 (file attached)

Asterixis

9/27/22, 2:15 PM - Dr. Deepika KIMS: Sir detailed history based proforma will be shared by tommorow sir

9/27/22, 2:15 PM - Dr. Deepika KIMS: And examination

9/27/22, 2:19 PM - Souraja 2k20: VID-20220927-WA0030.mp4 (file attached)

9/27/22, 2:19 PM - Souraja 2k20: VID-20220927-WA0031.mp4 (file attached)

9/27/22, 2:29 PM - Dr. Rakesh Biswas General Med: When are they going to be discharged?

9/27/22, 2:30 PM - Souraja 2k20: They already signed the discharge forms sir. They said they would leave by 3 or 3:30 as they have to catch a train at 6:00pm

9/27/22, 2:40 PM - Dr. Rakesh Biswas General Med: Then why tomorrow as mentioned by @918367363668 ?

9/27/22, 2:53 PM - Dr. Deepika KIMS: To type sir😅

9/27/22, 2:53 PM - Dr. Deepika KIMS: It was written on paper

10/13/22, 6:14 PM - Ashitha Ma'am changed their phone number to a new number. Tap to message or add the new number.

10/29/22, 7:57 AM - Dr. Rakesh Biswas General Med changed the subject from "53F Athetoid JP7 PaJR" to "53F Huntington JP7 PaJR"

10/29/22, 7:59 AM - Dr. Rakesh Biswas General Med: https://96sanjanapalakodeti.blogspot.com/2022/09/53f-with-uncontrolled-hand-movements.html

10/29/22, 8:01 AM - Manasa Ma'am PG joined using this group's invite link

10/29/22, 8:02 AM - Dr. Rakesh Biswas General Med: Vaire ki kono osudh ber hoyeche ?

10/29/22, 8:02 AM - Dr. Rakesh Biswas General Med: Aei oshudh ta niye bortomane ekta clinical trial cholche 👇

https://clinicaltrials.gov/ct2/show/NCT05358717

10/29/22, 8:04 AM - Dr. Rakesh Biswas General Med: @918522964349 @919330240199 Can you check with these trialists if they can take two of our patients into their ongoing clinical trial for their Huntington's disease?

10/29/22, 8:09 AM - Sanjana Palakodeti: Sure sir

10/29/22, 8:15 AM - Sanjana Palakodeti: I've emailed them sir

10/29/22, 8:18 AM - Dr. Rakesh Biswas General Med: Can you get into the call with Sara and @8801733506870  for the Frontiers Neuro issue?

10/29/22, 8:20 AM - Sanjana Palakodeti: Yes sir, has the date been fixed?

10/29/22, 8:23 AM - Dr. Rakesh Biswas General Med: Reply all to that group email from Sara and Vivek and tell them when you are free. Take others also in that email cc if they are interested in that call

10/29/22, 1:17 PM - +92 346 3730719 joined using this group's invite link

10/30/22, 8:58 AM - Arefin Sadat joined using this group's invite link

10/31/22, 7:06 PM - Sanjana Palakodeti: Thank you for your enquiry. Please be advised that your request has been forwarded to the appropriate department for handling.

 

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10/31/22, 7:06 PM - Sanjana Palakodeti: Reply to the email

10/31/22, 7:22 PM - Dr. Rakesh Biswas General Med: Let's look forward to the appropriate department responding 👍

1/4/23, 5:09 AM - +92 346 3730719 changed to +92 330 5072858

2/25/23, 12:27 PM - Dinesh Sir KIMS PG left

3/31/23, 11:42 PM - Arefin Sadat: @918522964349 Can you please share the 'Chat Export with media' document of this group? Need to collate all the discussion around this case for the AJND.