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 September 2023.
Newly diagnosed with
Charcot-Marie-Tooth disease type 1D?
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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.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
For a list of clinical trials in this disease area, please click here.