Rare feat: Jaslok Hospital triumphs disease which affects only one community from one part of India

Suffering from a rare genetic disorder called SCA-12, which is said to be afflicting only Agarwal community, Kharghar's Maya was successfully treated upon at the city’s hospital

Pic courtesy: The Health Site
Pic courtesy: The Health Site

In a landmark treatment, Mumbai’s Jaslok Hospital and Research Centre successfully performed world’s first neurological surgery for the control of Tremors on Spinocerebellar ataxia (SCA) – 12.

For thirteen years, Kharghar resident Maya (name changed on family’s request) had experienced involuntary nodding of her head, tremors in her hands, legs and slurred while talking. On Thursday, she could not contain her gratitude towards Jaslok Hospital’s neuro surgery team for giving her a new lease of life.

Rare disease afflicting the Agarwal community

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders and is often associated with poor coordination of hands, speech, and eye movements. (SCA)-12 is head and hand tremor, akinesia (loss of normal motor function, resulting in impaired muscle movement).

SCA is a rare disease that affects only the Agarwal community and this has amused the doctors’ community for nearly a decade since the definite gene test for its diagnosis has been available. Furthermore, this disease is more common in the Agarwal community in Bengal compared to those in Haryana or Rajasthan.

Successful surgery

Maya (57) had first experienced involuntary nodding of head in 2003. Tests had showed that she had SCA-12, a genetic disorder that most commonly is seen in Agarwal community in India.

Dr Pettarusp Wadia, neurologist at Jaslok Hospital who was treating Maya said SCA is hereditary, progressive, degenerative disease that can often cause death.

“There are around 43 types of SCA. So far, there has been no treatment or medication for tremors on SCA-12. In India, types SCA-1, 2, 3 and 12 of the disease are the most common and generally associated with Agarwal community,” said Wadia.

Explaining the symptoms, Dr Wadia said Maya had all the symptoms of tremors of SCA-12 and it starts with mild tremors in hands and gradually, affects walking. “It also leads to significant loss of limb co-ordination, eye moment co-ordination and slurred speech. Tremor is when your body part is shaking involuntarily,” he said.

There is no treatment available to control tremors and in many brainstorming sessions, the neurosurgeons at Jaslok Hospital carefully analysed the available medical literature.

“After a thorough analysis, a surgical solution called ‘caudal zona incerta’ that controls tremors was found. With the patient’s and her family’s consent, we conducted a six-hour-long surgery on November 18,” said Dr Paresh Doshi, neurosurgeon who led the team for the surgery.

Surgery explained

Doshi said during surgery, Maya was conscious. “We had installed a pacemaker in her chest. The pacemaker is operated from outside by a remote that is given to the relative and patient to control the tremors.”

While expressing his happiness, Maya’s son Rahul (name changed on family’s request), said, “We consulted doctors and hospitals in the USA and other countries. But, we were told by everyone that there is no medication or treatment.  We approached Jaslok Hospital in 2011. She was home-bound because of the disease. I am happy that my mother can now lead a near normal life.”

  • Brij

    My wife has also been found to be suffering from similar problem and found SCA 12 positive.
    Recently she had a fall due to which she had to undergo hip replacement surgery and is now under recovery. We have consulted many neurologists and she is on medication for treatment of tremors which are under control at present but her falling tendency remains and don’t know when she can lose strength in her knees and fall down.