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Spinocerebellar ataxia (SCA), also known as spinocerebellar atrophy or spinocerebellar degeneration, is a progressive, degenerative, genetic disease found in the <keyword id="781" type="PERSON" weightage="60" keywordseo="Agarwal">Agarwal</keyword> community in India. 
 It is a rare disease that afflicts only the Agarwal community and has intrigued doctors for nearly a decade since the definite gene test for its diagnosis has become available. Surprisingly, it is more common among people in the Agarwal community in Bengal compared to those in <keyword id="41646" type="COMPANY" weightage="60" keywordseo="Haryana">Haryana</keyword> or <keyword id="6355588" type="ORGANIZATION" weightage="20" keywordseo="Rajasthan">Rajasthan</keyword>. 
 
Where is it found? 
 Around 43 types of SCA have been detected around the world. In India, types 1, 2, 3 and 12 of the disease are the most common. While the other three are more commonly found, <keyword id="3882528" type="UNKNOWN" weightage="20" keywordseo="SCA-12">SCA-12</keyword> is yet to be detected outside the particular community in Bengal. 
 
What does the disease do? (Symptoms) 
 
SCA-12 starts with a mild tremor of the hands and gradually affects walking. Eventually, it leads to significant loss of limb co-ordination, eye movement co-ordination and slurred speech. 
 
Diagnosis 
 “The disease can be diagnosed when the patient is in his/her 30s or later. It also has a probability of 50 percent in the Agarwal community,” said Dr. <keyword id="3882526" type="PERSON" weightage="20" keywordseo="paresh-doshi">Paresh Doshi</keyword>, Director of Neuro Surgeon, <keyword id="6412249" type="ORGANIZATION" weightage="100" keywordseo="Jaslok-Hospital">Jaslok Hospital</keyword> &amp; Research Centre. 
 
• Develop an action tremor of the upper extremities in mid-life 
• A mild gait abnormality and more prominent parkinsonian features 
• Psychiatric disorders and dementia in some of the old individuals. 
 
The Story of a 57-year old woman 
 
A 57-year old housewife (who has 3 kids); resident of Kharghar was leading a good normal healthy life until she started showing some symptoms like involuntary nodding of head in 2003. Gradually her symptoms started increasing, she started having tremors in her right hand which then progressed to left. Gradually she started having difficulty while walking, would walk with support in 2014, and so she avoided parties as travelling to places became difficult for her. 
 
Treatment 
 
A team of doctors has successfully performed world’s first surgery for tremors of different etiology with good success since surgery for SCA -12 tremors had never been attempted before in the world. On careful review of the literature and available data the team of doctors at a hospital in Mumbai (Jaslok Hospital) decided to use a novel target for the control of these tremors. 
 
“There is no treatment to this disease, only symptoms can be controlled. This makes life much less miserable and worth living for patient/s,” quoted Dr. Doshi.

Exclusive: A rare
genetic disorder affects the entire ‘Agarwal’ community in India, which a team
of Doctors from Jaslok Hospital just successfully treated

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Exclusive: A rare genetic disorder affects the entire ‘Agarwal’ community in India, which a team of Doctors from Jaslok Hospital just successfully treated

Gaurav Sangwani

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