53F 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.

A 53F woman, who works as a teacher complains of uncontrolled movements in fingers and toes since 7 years. 

HISTORY OF PRESENT ILLNESS:

Patient was apparently asymptomatic 7 years back. She then developed slight movements in her fingers and toes that were not under her control. These movements lasted for 10-15 minutes and occurred 2-3 times in an hour. The frequency has now increased. There is no associated weakness. These tremors are of low amplitude and high frequency. They are also present during sleep. Episodic in nature. Occur and resolve spontaneously. No triggers.

Aggravated on stretching arms. No relieving factors. 

She also complains of her hands and feet getting cold and that she suddenly starts sweating a lot.

Over the 5-7 years, she had fallen down at the bus stop 3 times (while climbing the bus) and 2 times while walking due to loss of balance. She did not lose consciousness and was able to get back up in 1-2 mins by herself. There was no associated injury. 

Since 2-3 years, she started developing memory issues. She is unable to recall the person whom she met 2-3 days back. She still remembers her childhood memories. She is now unable to form Hindi and English sentences (she used to be fluent in Hindi and English before this.) Her writing speed and handwriting has also deteriorated. 

These complaints have not affected her personal and professional life. 

PAST HISTORY: 

Not a k/c/o DM, HTN

K/c/o Asthma since 1 year

FAMILY HISTORY:

Maternal Grandfather: Suffered from similar complaints. When pt. was 5 yrs old, she witnessed his whole body 'shaking' and he fell down. After this he was bedridden and passed away.

Mother: Had similar symptoms (fingers and toes shaking) at 56 yrs of age. This progressed to involve full body. She also fell down often and had developed a short temper. She was bedridden for 2 months and passed away at 58.

Aunt 1 (Mothers sister): Developed symptoms at 53 yrs of age. By 60, she had loss of speech and was bedridden. 

Aunt 2 (Mothers sister): Developed symptoms at 55 yrs of age. Now bedridden.

Brother (48yrs): Developed similar symptoms 4 years back. Now, it has progressed to involve full body. He also has developed a short temper.

Shows AD pattern of inheritance with anticipation

PERSONAL HISTORY:

No consanguinous marriage 

Alcohol: Started at 24 yrs of age. Takes 2-3 pegs occasionally (2-3 times a year)

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 (?).