Clinical Reasoning: Pes cavus and neuropathy: think beyond Charcot-Marie-Tooth disease

An 18-year-old woman was referred to a neuromuscular clinic for neuropathy and tremors. She
had been born full-term and had mildly delayed walking at 14 months. She was a toe-walker,
clumsy, and when running, had difficulty keeping up with her peers. She was diagnosed with
attention-deficit/hyperactivity disorder (ADHD) at age 7 and was found to have high arches
and difficulty with heel-walking. EMG and nerve conduction studies (NCS) were performed,
showing demyelinating neuropathy (table e-1, doi.org/10.5061/dryad.876r5m5). With her
history and EMG/NCS findings, she was diagnosed with Charcot-Marie-Tooth (CMT) disease. Symptoms progressed over the next few years, characterized by tripping, occasional falls,
and continued difficulty running. She could climb stairs without the use of a handrail, but was
very cautious going down the stairs. She also developed tremors in the hands (left > right),
which would worsen when she approached objects. There was no loss of sensation, pa...