Genetic disorders producing compressive radiculopathy

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Semin Neurol. 2006 Nov;26(5)515-22.

Genetic disorders producing compressive radiculopathy.

Corey JM.

Department of Neurology, University of Michigan Medical School, Ann

Arbor, Michigan.

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.