Genetic Work-Up for the Rare New Mutations Causing Musculoskeletal and Spine Pain

Abstract

1.1. Background: Spine pain is widespread due to degenerative disc disease and facet arthropathy. Most patients improve with supportive conservative care measures, including non-steroidal anti-inflammatories, physical therapy, short episodes of rest, and activity modification. Medical and interventional pain management is reserved for those patients who do not improve within 4 to 6 weeks of standard spine care managed within the primary care setting, after which patients are typically referred to a specialist. Genetic conditions are rarely considered early in the differential diagnosis and may be easily missed in non-responsive patients. 1.2. Methods: We briefly de-scribe two illustrative cases of patients with a history of chronic musculoskeletal and spinal pain, whose delayed diagnosis led to improper utilization of medical resources until they were diagnosed correctly and targeted personalized care for their painful syndromes could be instituted.