Data from: 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, paresthesias, bladder or bowel problems, or hearing or visual
symptoms. She graduated from high school and was accepted into college.
Family history was negative for neurologic disorders. Neurologic
examination showed normal mental status and cranial nerves. There were no
abnormal eye movements or corticobulbar findings (no brisk jaw jerk, gag
reflex, dysarthria, or pseudobulbar palsy). She had ankle contractures and
pes cavus. She had mild lower limb spasticity without atrophy or
fasciculations, and 5−/5 weakness of distal extremity muscles, including
bilateral abductor digiti minimi, first dorsal interossei, tibialis
anterior, and extensor hallucis longus. Tendon reflexes were 2+ in the
upper extremities and brisk (3+) in the lower extremities; plantars were
extensor. Sensation was intact to light touch, pain, temperature, and
proprioception, but vibration was mildly reduced at the toes. She had
cerebellar intention tremors (left > right) and mild dysmetria on
finger-to-nose testing without appreciable dysdiadochokinesia. Her gait
was mildly wide-based and tandem gait was impaired.