Neuromuscular Disease

This chapter illustrates diseases that involve the peripheral nervous system and skeletal muscle. In such diseases, history and physical examination frequently provide sufficient data to arrive at the correct diagnosis. For example, autonomic dysfunction, distal limb weakness, hyporeflexia, and sensory loss in an adult with long-standing diabetes mellitus are probably due to diabetic neuropathy, and fluctuating weakness of bulbar and ocular muscles without sensory or reflex alterations strongly suggests myasthenia gravis. The clinical diagnosis can often be validated by specific immunochemical, biochemical, or molecular blood tests, as in the common scenario of polyneuropathy (Table 1).