49 yrs old male with involuntary head movement

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.  

PATIENT HISTORY: 

Biological component:

Pt is a 49 yrs old male, who used to run his own business of distributorship of cosmetic products, before finally shutting down business in 2016.

Till graduation he was alright.

In 1998, met with an RTA, and suffered from hip and pelvic #. He took 2 months of complete bed rest. Then returned to normal life. At that time his older brother took care of him.

In 2000, one day while watching TV in the club room, he felt the back of his neck and head getting stiff along with the involuntary movement of his head in a "no-no" fashion (at first only visible on careful observation). It lasted for 5-10 secs and happened 1-2 times in a day, a few times a wk, accompanied by a prickling pin and needle sensation along his spine sometimes.

Within few years (2005) the frequency, duration (10-15 mins), and severity increased progressively. A local physician prescribed medication but no relief. 

Once while in a market with his employee, he c/o these same symptoms, unable to carry on with the intended work, he sat down. Since that incident, he unwillingly had to pass on more responsibilities to the employees. 

Went to Bangalore in 2006, Dr. prescribed Tryptomer 0.25 mg and Lonazep 0.5 mg o.d, taking those provided complete relief for 3 months. Then again it started increasing.

He tried homeopathic treatment, which provided no relief.

Went to Bangalore again in 2008, Dr told him to increase the dosage if req. Doing so provided some relief.  

Then he lost contact with his treating Dr and since medicines were becoming less and less effective day by day, he stopped taking those. In the meantime, his symptoms kept on becoming more severe.

He c/o not being able to have proper sleep because whenever, he would lie down in a supine position his involuntary head movement would reappear, so much so that he had to lie down on his sides with a pillow below his head and they went to sleep. In most cases, he failed to get any sleep. Medications by Drs for not being able to sleep did little help.

By 2012, he was not able to maintain balance and was past pointing test +ve (if asked to touch his nose he will touch his eyes instead). He went to Bhopal, Dr did MRI, and diagnosed it to be Spino cerebellar degeneration. Dr. prescribed Liofen 5mg and Clonafit 0.5 MD. But, for a few months, his symptoms reduced a bit, then again like before.

In 2012, he did Ayurveda treatment as his speech was getting slurry. He chewed the roots of the plant "long pepper" till 2016, which he claims to have improved his speech. Before which it was incomprehensible.

By 2013, he was unable to walk without someone's help or support.

By 2015-16, he can't even go downstairs to sit in his shop below his house. In the meantime, he was recurring huge losses in his business, since he had handed the responsibility to the employees. 

Till July 2016, he took medications, then gave up since taking those made no difference.

He became confined to his room mostly, sometimes would rarely visit his friend's home nearby (booking an auto from the front gate to reach his friend's house). 

In 2018, when his family separated, his BP became very high. Dr diagnosed HTN and since then taking Telvas AM o.d.

For the past 3 yrs, c/o constipation (no defecation for a day or so, hence uses laxatives sometimes ). No digestive issues.

At present, pt is not able to write properly, head movement would happen more when he is doing puja (meditation), watching phone, urinating or defecating, or if stressed out or thinking deeply. But, if he tries to sleep, his head movement stops.

Pt had now attached metal rods all around and inside his house, which he uses to walk around. He reported doing exercise does provide some relief.

Pt denied h/o DM.

Pt denied h/o any addiction.

Psychosocial component:

Pt's mother was diagnosed with Spinocerebellar degeneration, after which his dad left their family and married another woman. Mom died one year later at age of 35 yrs, just 1 yr later.

Pt was just 11 yrs old then. He grew up under his elder brother and sisters' care.

Pt's elder sister got divorced within 3 months and soon after was diagnosed with Spinocerebellar degeneration. She shifted to his house and he took care of her till death. She died in Sep 2003. At that time, except for slight head movement. he had no complaints. He cared for her deeply (e.g used to change her sheets when soiled). Because he had seen her suffer so much, now he is afraid that he will suffer the same fate.

At that time his elder brother who used to stay with him had also started showing symptoms of Spinocerebellar degeneration and his condition was deteriorating faster. Pt had to take care of his brother also, feed him, and clean his clothes and bedsheets till his death (2013). His brother was bedridden for the last 15-20 days.

Within days of her passing away, he heard his father had also passed away.

Pt repeated the statement that this disease is the reason for tearing his family apart.

In 2012, when he learned that his disease may affect his daughter, he cried a lot in the hospital.

After his brother passed away, in around 2014-15, he was very much devastated emotionally and suffered from depression as he realized he will one day have to go through the same. His condition started to deteriorate. His wife and sister started mocking him for his condition. 

Because of road expansion, Govt had to break down a part of his house. With the compensation provided he built a new house in the backyard.  

In 2018, he and his wife shifted to the new house. But, whenever at night he would come to sleep in the same bed, his wife would use abusive language and insult him badly. She would say that he can't fulfill her material and physical needs. Since then, they are leaving separately (pt in the old house, and his wife is in the new house). At that time only he was diagnosed with HTN.

In 2021, his other sister (married) died of the same disease at age 56 yrs. 

At first, he had to eat home delivery. Since the lockdown started he started cooking his own food. Later, his maid would help him. 

Even his daughter would behave nicely with him in front of others but later would tell him it was just an act to maintain her good image. 

He is very grateful to his maidservant who has been taking care of him for the past 6-7 yrs. He claimed because of her he is alive to date. Only when she takes leave, his wife sometimes sends him food.

He has given up hope of getting cured any day. He wants to leave but, knows that he may not leave long. He is sad that is family is not with him during his time of need and blames the disease for everything.

His last and only wish is the discovery of a magic drug that can treat his condition and make him return to normal life.

CHIEF COMPLAINT AND PT REQ: Pt since diagnosed with SCA, has accepted his fate and is eagerly waiting for a magic drug that will heal him.

FAMILY HISTORY: 

 Father - no known health issue. Died in 2003, aged 60 yrs

Mother - diagnosed with Spino cerebellar degeneration. Died at age of 35 yrs.

Elder brother - died at age of 42 yrs, due to the same disease

2 sisters - died at age of 41 yrs and 56 yrs

REPORTS: 

All were lost during house construction.

https://drsaranyaroshni.blogspot.com/2022/02/a-middle-aged-man-with-progressive.html?m=1