Disease association ontology term - MONDO:0011687 - Charcot-Marie-Tooth disease axonal type 2F
Term summary
- ID
- MONDO:0011687
- Name
- Charcot-Marie-Tooth disease axonal type 2F
- Ontology or CV name
- Disease association
- Definition
- Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.
