Bengaluru: 5 ½ -year-old girl from Oman suffering from a Rare Case of dystonia disease DYT-16, a novel young-onset dystonia-parkinsonism disorder along with other complications was treated at Vikram Hospital. Nafiza(Name change), a 5 ½ -year old child from Oman was diagnosed to have a rare genetic condition called DYT-16. It is characterized by progressive abnormal posturing of limbs (medically termed as dystonia) leading to complete dependence for all activities of daily living (ADL). She is completely bed bound and dependent from all the activities of daily living. It is a rare genetic abnormality case with only about 10-15 cases documented worldwide. Patient is under the treatment and observation of a team of doctors from the Neuroscience Department consisting of Dr. Prashanth LK, Consultant Parkinson’s Disease & Movement Disorder Specialist; Dr. Kiran Khanapure, Functional Neurosurgeon; Dr. S. Raghavendra, Consultant Neurologist and Epileptologist.
The treatment involved surgical procedure for over 7 hours called- Deep Brain Stimulation (DBS). DBS is commonly done for Parkinson’s disease patients. However, in addition to this, it is also done in other disorders like Dystonia and tremors. After the seven hours of surgery, Nafiza is on her way to recovery.
Elaborating on the criticality of the case, Dr. Prashanth L. K, Consultant Parkinson’s Disease and Movement Disorders Specialist, said, “DYT16 being a very rare disease, treatment options are very limited and experiences are limited. In fact DBS for DYT16 has been done only for four other individuals worldwide to-date. After various options we decided combinedly for a surgical intervention. Now after one month of surgery, she has made significant improvements. We are hoping to that her improvements will much better in due time”
Dr. Kiran S. Khanapure, Functional Neurosurgeon, said, “This case is critical for Vikram Hospital as being the first ever case of DYT 16 operated in India and also being the Youngest child to undergo DBS surgery in India. Since the patient is 5 ½ years old, the challenges are high as the implants done are mostly for adult patients. In view of her low weight and subcutaneous fat, we placed the DBS battery in the abdominal wall (as against to where we usually place, i.e. below the collar bone).”
Dr. Somesh Mittal, MD & CEO, Vikram Hospital Bengaluru also commented “We are proud of our doctors for been handling critical cases successfully. This case is one of the most sensitive and challenging cases for the doctors as DBS is mainly performed involving equipment’s that are used for adults but after detailed planning by our experts she underwent through the procedure with implantation of electrodes in her brain (the part called as Globus Pallidus interna). Our expertise from the team of doctors helped take right decisions and enabled the parents to see new hope for their daughter.”
DYT-16 is usually transmitted in autosomal recessive manner (like consanguineous parentage or both parents having one abnormal gene) and is noted in the early childhood years. Currently till date, very few families have been documented worldwide to have DYT16. There is no specific curative treatment for DYT16 yet.