Charcot-Marie-Tooth Disease, also known as Hereditary Motor and Sensory Neuropathy (HMSN),is a group of progressive hereditary nerve disorders associated with defective production of proteins in peripheral nerves or myelin.
The disease is typically inherited in an autosomal dominant fashion, and the most common CMT1A subtype is caused by a duplication of PMP22.
Clinical findings include sensory and motor deficits, as well as foot deformities including hammer toe, pes cavus (high-arched foot), pes planus (flat foot), and foot drop. Nerve damage and resulting muscle atrophy can lead to an “inverted bottle” or “stork leg” appearance of the lower extremities.
Find Charcot-Marie-Tooth Disease and other Neurological Disorders among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.