Charcot-Marie-Tooth disease axonal type 2F
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.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT 2F
related
CMT2F
exact
Charcot Marie Tooth disease type 2F
related
Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1
exact
Charcot-Marie-Tooth disease type 2F
related
Charcot-Marie-Tooth disease, axonal, type 2F
related
Charcot-Marie-Tooth disease, neuronal, type 2F
related
Charcot-Marie-Tooth neuropathy, type 2F
related
HSPB1 Charcot-Marie-Tooth disease type 2
exact
autosomal dominant Charcot-Marie-Tooth disease type 2F
exact
SPBC3E7.02c SPCC338.06c