Disease association ontology term - MONDO:0012012 - Charcot-Marie-Tooth disease dominant intermediate C
Term summary
- ID
- MONDO:0012012
- Name
- Charcot-Marie-Tooth disease dominant intermediate C
- Ontology or CV name
- Disease association
- Definition
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.
