AI Article Synopsis
- Charcot-Marie-Tooth disease (CMT) is a prevalent inherited condition that leads to sensory loss, muscle weakness, and atrophy, with no known effective treatments currently available.
- A 6-year-old girl diagnosed with CMT type 4B presented with hoarseness and was treated with noninvasive ventilation, followed by a novel cordotomy procedure after a year.
- CMT type 4B can lead to breathing difficulties like stridor, and both noninvasive ventilation and unilateral posterior cordotomy can be effective management strategies for hereditary neuropathies.
Article Abstract
Background: Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neuropathies. The disease is generally characterized by sensory loss most prominent in distal extremities, muscle weakness, and muscle wasting. There is still no effective therapy for Charcot-Marie-Tooth disease.
Case Presentation: The patient is a 6-year-old Iranian girl, of Fars ethnicity, who was admitted with a chief complaint of hoarseness and an impression of Charcot-Marie-Tooth disease type 4B. She was initially treated with noninvasive ventilation and, after a year, electively underwent cordotomy as a novel therapeutic approach.
Conclusions: Charcot-Marie-Tooth disease type 4B is a less common but important cause of stridor. Noninvasive ventilation treatment and unilateral posterior cordotomy can be utilized for hereditary neuropathies.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11366128 | PMC |
| http://dx.doi.org/10.1186/s13256-024-04742-6 | DOI Listing |
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