A Case Of Charcot-Marie-Tooth Disease Type 2o (CMT 20) Associated With Dync1h1 And Slc12a6 Mutations
Document Type
Case Report
Abstract
Charcot-Marie-Tooth disease (Charcot Marie-Tooth) comprises of a variety of hereditary diseases affecting the peripheral nervous system. Charcot Marie-Tooth2 is a subgroup caused by defects in the axon of the peripheral nerve cells. Charcot Marie-Tooth Type 2O is an uncommon type that affects less than one in a million people and is linked to specific genetic abnormalities. We report a case study of a 66-year-old individual with Charcot Marie-Tooth Type 2O, diagnosed on clinical presentation and identified through genetic analysis. Electromyography and nerve conduction studies supported the diagnosis of an axonal sensorineural neuropathy. A comprehensive genetic neuropathies panel led to the identification of mutations in SLC12A6 and DYNC1H1 gene. This case adds to our growing understanding of Charcot Marie-Tooth Type 2O and paves the path for new therapeutic options targeting specific genetic abnormalities, providing hope for improved patient management approaches in the future.
Recommended Citation
Arshad, Tehreem; Hassan, Muhammad Jawad; and Ahmad, Arsalan
(2024)
"A Case Of Charcot-Marie-Tooth Disease Type 2o (CMT 20) Associated With Dync1h1 And Slc12a6 Mutations,"
Pakistan Journal of Neurological Sciences (PJNS): Vol. 19:
Iss.
2, Article 3.
Available at:
https://ecommons.aku.edu/pjns/vol19/iss2/3
