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Indian Journal of Orthopaedics Surgery

Profile of rare disabling musculoskeletal diseases in the North-Eastern Region of India: A hospital based study

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Author Details: Bhaskar Borgohain, Tashi G. Khonglah, Cherry M. Tariang

Volume : 3

Issue : 2

Online ISSN : 2395-1362

Print ISSN : 2395-1354

Article First Page : 209

Article End Page : 216


Traditionally, research and development of treatments for rare diseases has been neglected in favour of more common diseases. Rare diseases are rare but rare disease patients may not be that rare in a populous country. It's ironic that rare diseases affect over 70 million people in India, yet there is so little being done by way of research, drug creation and counseling of patients and families across the country. The Swedish definition of a rare disease is a disorder resulting in an extensive disability with a prevalence of no more than 1 in 10,000 inhabitants. We retrospectively analyzed a series of very rare disabling musculoskeletal diseases over a period of seven years, presenting to the orthopaedic department of a tertiary care referral hospital located in the North-Eastern Region of India and present a snapshot of their pattern and barriers in their management. Diagnosis of specific clinical phenotype, prognostication and their management may not follow any clear protocol due to lack of guidelines and treatment may be a long drawn process. Critical information may not be readily available in the textbooks to provide proper counseling to the family and delays in diagnosis are commonly experienced by patients and may be due the small number of patients’ affected and poor awareness of rare diseases by health professionals. Rare diseases are all the more challenging due to lack of knowledge bases and clinical expertise, leading to uncertainty in their practical management particularly in resource constrained settings.

Rare diseases, Medical informatics, Diagnostic error, Genetic testing