Abstract |
Charcot Marie Tooth (CMT) is a heterogeneous group of genetic disorders characterized by progressive motor and sensory neuropathy. CMT is a multi-gene disorder with several possible mutations responsible for a wide range of clinical presentations. A specific mutation of the ganglioside-induced-differentiation-associated protein 1 (GDAP1) gene is associated with the axonal subtype of CMT ( CMT2K) which is inherited in an autosomal dominant fashion, as well as the demyelinating subtype ( CMT4A) which is inherited in an autosomal recessive pattern. Phenotypic disease expression is largely dependent on these inheritance patterns. While the autosomal recessive form ( CMT4A) exhibits severe disease with an early onset, the autosomal dominant variant ( CMT2K) tends to have milder phenotypes and a later onset. We describe an atypical presentation of a patient with severe CMT2K with rapidly progressive polyneuropathy, respiratory failure, and dysphonia. We suggest that this case will inspire further evaluation of disease heterogeneity and variants.
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Authors | Adrian Rodriguez-Hernandez, Meagan Mayo, Lilibeth Jauregui, Pooja Patel |
Journal | Frontiers in neurology
(Front Neurol)
Vol. 13
Pg. 905725
( 2022)
ISSN: 1664-2295 [Print] Switzerland |
PMID | 36353131
(Publication Type: Case Reports)
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Copyright | Copyright © 2022 Rodriguez-Hernandez, Mayo, Jauregui and Patel. |