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

Cite this dataset

Alderson, Jillian; Ghosh, Partha S. (2019). Data from: Clinical Reasoning: Pes cavus and neuropathy: think beyond Charcot-Marie-Tooth disease [Dataset]. Dryad.


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, 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.

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