Charcot-Marie-Tooth disease type 1D

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Synonyms: CMT1D

Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term) caused by mutations in the EGR2 gene (10q21.1) with a variable severity and age of onset (from infancy to adulthood) that usually presents with gait abnormalities progressive wasting and weakness of distal limb muscles with possible later involvement of proximal muscles foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis cranial nerve deficits such as diplopia and bilateral vocal cord paresis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Charcot-Marie-Tooth disease type 1D?

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