Charcot-Marie-Tooth disease recessive intermediate C
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.
MONDO:0017058
autosomal recessive intermediate Charcot-Marie-Tooth disease
is_a
CMTRIC
exact
Charcot-Marie-Tooth disease caused by mutation in PLEKHG5
exact
Charcot-Marie-Tooth disease recessive intermediate type C
exact
Charcot-Marie-Tooth disease, recessive Intermediate type C
exact
Charcot-Marie-Tooth disease, recessive intermediate C
related
PLEKHG5 Charcot-Marie-Tooth disease
exact
RI-CMT type C
exact
RI-CMTC
exact
autosomal recessive intermediate Charcot-Marie-Tooth disease type C
exact