Charcot-Marie-Tooth disease type 2D (CMT2D)
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Pathology
- non-demyelinating (axonal) neuropathy
- axonal regeneration in the absence of obvious myelin alterations
Genetics
- autosomal dominant
- associated with defects in GARS
Clinical manifestations
- more severe phenotype in upper extremities than in lower limbs
- severe weakness & atrophy
- absence of tendon reflexes