Charcot-Marie-Tooth disease type 1D

Get in touch with RARE Concierge.

Contact RARE Concierge

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: // Data version September 2023.

Newly diagnosed with
Charcot-Marie-Tooth disease type 1D?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Hereditary Neuropathy Foundation

Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization which mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families with critical information to improve quality of life, and fund research that will lead to treatments and cures.

Clinical Trials

For a list of clinical trials in this disease area, please click here.