Charcot-Marie-Tooth disease type 2K (CMT2K)
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Pathology
Genetics
- autosomal recessive
- associated with defects in GDAP1 gene
Clinical manifestations
- onset is in early childhood (< 3 years of age)
- foot deformities
- kyphoscoliosis
- distal limb muscle weakness & atrophy
- areflexia
- diminished sensation in the lower limbs
- weakness in upper limbs in 1st decade of life
- clawing of the fingers.