Charcot-Marie-Tooth disease type 1D
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 April 2024
Newly diagnosed with
Charcot-Marie-Tooth disease type 1D?
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Advocacy Organizations
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Clinical Trials
For a list of clinical trials in this disease area, please click here.