Genetic Disorders Producing Compressive Radiculopathy

Abstract

Back pain is a frequent complaint seen in neurological practice. In evaluating back pain, neurologists are asked to evaluate patients for radiculopathy, determine whether they may benefit from surgery, and help guide management. Although disc herniation is the most common etiology of compressive radiculopathy, there are many other causes, including genetic disorders. This article is a discussion of genetic disorders that cause or contribute to radiculopathies. These genetic disorders include neurofibromatosis, Paget's disease of bone, and ankylosing spondylitis. Numerous genetic disorders can also lead to deformities of the spine, including spinal muscular atrophy, Friedreich's ataxia, Charcot-Marie-Tooth disease, familial dysautonomia, idiopathic torsional dystonia, Marfan's syndrome, and Ehlers-Danlos syndrome. However, the extent of radiculopathy caused by spine deformities is essentially absent from the literature. Finally, recent investigation into the heritability of disc degeneration and lumbar disc herniation suggests a significant genetic component in the etiology of lumbar disc disease.

Is There a Relationship Between Joint Hypermobility and Lumbar Disc Degeneration and Also Low Back Pain? A Multidisciplinary Clinical Study

“…Although HM is not commonly referred to as a disease, the predominant complaint is usually widespread and long-lasting pain, and it is also the most common cause of unexplained joint pain (3) . But, the relationship between increased lumbar segmental motion and LDD and also LBP is still controversial (20)(21)(22)(23) . Our results suggest that HM does not lead to increase in DD, VAS, and ODI values (Table 2) which can be an indicator of the importance of maintaining the joint motion harmonization especially for the cases who have hypermobile joints.…”