Charcot-Marie-Tooth disease

To discuss the similarities and differences in the clinical presentation of Charcot-Marie-Tooth Disease, an inherited peripheral neuropathy, and acquired lumbar spinal stenosis.

Patients with lumbar spinal stenosis causing nerve root entrapment often have leg pain and weakness during such activities as walking or standing. Additional symptoms of poor balance, foot deformity and signs of cerebellar and sensory ataxia suggest a diagnosis of peripheral neuropathy rather than nerve root entrapment.

Electrodiagnostic testing and nerve conduction studies reveal abnormal conduction velocities in cases of peripheral neuropathy such as Charcot-Marie-Tooth Disease.

Sciatica and leg weakness may be due to a variety of causes, including nerve root entrapment and peripheral neuropathy. A diagnosis of Charcot-Marie-Tooth Disease should be considered in a case of progressive lower limb weakness associated with loss of balance and sensory ataxia. This diagnosis can be confirmed using nerve conduction studies.