Professional and Linguistic Assessments Board (PLAB) Practice Exam

What is the most common hereditary peripheral neuropathy?

1. Guillain-Barré syndrome

2. Charcot-Marie-Tooth disease

3. Hereditary neuropathy with liability to pressure palsies

4. Diabetic neuropathy

The correct answer is: Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is recognized as the most common hereditary peripheral neuropathy. This condition encompasses a group of inherited disorders that affect the peripheral nerves, leading to muscle weakness and atrophy, sensory loss, and other symptoms. The disease primarily stems from genetic mutations that affect the myelin sheath surrounding nerve fibers or the axons themselves, which are essential for the proper transmission of nerve signals. The prevalence of Charcot-Marie-Tooth disease contributes to its designation as the most common hereditary form, and it can manifest in various forms, the most common being CMT1A, which is linked to a mutation in the PMP-22 gene. Understanding the genetic basis and clinical features of Charcot-Marie-Tooth disease is crucial for proper diagnosis and management, especially since early identification can help tailor support and treatment for affected individuals. Other conditions listed, such as Guillain-Barré syndrome and hereditary neuropathy with liability to pressure palsies, are less common. Diabetic neuropathy, while prevalent in individuals with diabetes, is an acquired condition rather than a hereditary one. Thus, recognizing Charcot-Marie-Tooth disease as the leading hereditary neuropathy is vital for clinicians and patients alike.