Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Synonyms: CMTDIA
A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities distal sensory loss reduced or absent deep tendon reflexes and feet deformities) in the first to second decade of life with steady progression until the fourth decade severe progression and stabilization afterwards.
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
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A?
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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
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