Progressive Limb Weakness and Sensory Loss in a Young Woman

Patients with neuromuscular disease often present with a combination of symptoms that suggest a wide differential diagnosis. Traditionally, electrophysiologic studies and microscopy have aided the clinician in making a diagnosis. More recently, genetic testing for specific diseases has helped to ensure correct diagnosis. The following is a case that emphasizes the importance of combining clinical, electrophysiologic, microscopic and finally, genetic findings.