Charcot-Marie-Tooth Disease With Severe Hand Contractures and Respiratory Failure Requiring Long-Term Ventilator Support: A Case Report

Cureus. 2025 Sep 17;17(9):e92525. doi: 10.7759/cureus.92525. eCollection 2025 Sep.

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common hereditary motor and sensory neuropathy, predominantly affecting distal limb muscles, particularly in the lower extremities. Respiratory muscle involvement is rare and not typically associated with ventilator dependence. We report a case of a 76-year-old man with a longstanding history of CMT who developed severe bilateral hand contractures and progressive respiratory failure following a brainstem stroke. Despite multiple weaning attempts, he remained ventilator dependent due to neuromuscular weakness and recurrent respiratory infections. This case highlights the importance of vigilant respiratory monitoring in advanced CMT, especially in the context of comorbid neurologic events.

Keywords: brainstem stroke; charcot-marie-tooth disease; inherited peripheral neuropathy; palliative care; respiratory failure.

Publication types

  • Case Reports