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

**Authors:** Pavani Battula, Hammad Raza

PMC · DOI: 10.7759/cureus.92525 · Cureus · 2025-09-17

## TL;DR

A man with Charcot-Marie-Tooth disease developed severe hand issues and respiratory failure requiring long-term ventilation after a stroke.

## Contribution

This case report highlights rare ventilator dependence in CMT due to respiratory failure following a brainstem stroke.

## Key findings

- A 76-year-old CMT patient became ventilator-dependent after a brainstem stroke.
- Severe hand contractures and respiratory infections contributed to ongoing ventilator need.
- The case emphasizes the need for respiratory monitoring in advanced CMT with neurological events.

## 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.

## Linked entities

- **Diseases:** Charcot-Marie-Tooth disease (MONDO:0015626), respiratory failure (MONDO:0021113)

## Full-text entities

- **Diseases:** hereditary motor and sensory neuropathy (MESH:D015417), respiratory infections (MESH:D012141), neuromuscular weakness (MESH:D009468), Hand Contractures (MESH:D003286), Respiratory muscle involvement (MESH:C566343), Charcot-Marie-Tooth (CMT) disease (MESH:D002607), brainstem stroke (MESH:D020526), Respiratory Failure (MESH:D012131)

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12532275/full.md

## References

7 references — full list in the complete paper: https://tomesphere.com/paper/PMC12532275/full.md

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Source: https://tomesphere.com/paper/PMC12532275