Charcot-Marie-Tooth disease recessive intermediate A
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
MONDO:0017058
autosomal recessive intermediate Charcot-Marie-Tooth disease
is_a
CMTRIA
exact
Charcot-Marie-Tooth disease caused by mutation in GDAP1
exact
Charcot-Marie-Tooth disease recessive intermediate type A
exact
Charcot-Marie-Tooth disease, recessive Intermediate type a
exact
Charcot-Marie-Tooth disease, recessive intermediate A
related
Charcot-Marie-Tooth disease, recessive intermediate, A
related
GDAP1 Charcot-Marie-Tooth disease
exact
RI-CMT type A
exact
RI-CMTA
exact
autosomal recessive intermediate Charcot-Marie-Tooth disease type A
exact