Excelsior Correspondent
JAMMU, Aug 2: Mysterious skeletal disorder that rendered many people physically challenged in Arai village of Poonch district has finally been identified as a rare genetic skeletal disorder.
A team headed by Dr Swarkar Sharma, Asstt Prof in the School of Biotechnology, SMVDU, had visited Arai village. The purpose of the trip was to understand more about this unknown disorder and collect familial data. Dr Swarkar Sharma has been working in the area of Human Molecular Genetics for almost 10 years. According to him, it took them almost two months, collaborative efforts, lot of brain storming with many international orthopedic surgeons and expert radiologists, including members of International Skeletal Dysplasia Society (ISDS), for the final and proper diagnosis of the disorder. The people prominently involved in understanding the genetic nature and identification of the disorder were; Dr Ekta Rai, Asstt Prof School of Biotechnology, Dr K K Pandita, Batra Hospital; Dr Carol Wise, Texas Scottish Rite Hospital, Dallas USA; Dr Shiro Ikegawa, RIKEN Center for Integrative Medical Science, Japan; Dr K Thangaraj, Center for Cellular and Molecular Biology, Hyderabad and Dr Parvinder Kumar, Assistant Professor, Jammu University. Dr K K Pandita and Dr Sushil Razdan, renowned clinicians, contributed in understanding the clinical perspectives of the disorder. They also arranged for radiological and biochemical diagnostic tests for some of the patients. These tests were very critical, mainly to rule out “Kaschin-Beck Disease”, a disorder with similar phenotype (physical appearance) and frequent in Tibetan region of China.
Putting all evidences together, the disease has finally been diagnosed as “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This is a very rare (for example, with an estimated frequency of 1 per million in UK), recessive hereditary skeletal disease and has been reported mainly in inbred populations as in Arai village.
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