Charcot-Marie-Tooth disease type 1C
Synonyms: CMT1C
A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting gait difficulties parethesias decreased vibration and pain sensation or as a milder predominantly sensory form with transient paresthesias decreased sensation and distal pain in upper or lower limbs without significant motor weakness. Pes cavus is a common feature and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.
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 1C?
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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.