Charcot-Marie-Tooth disease type 2L (CMT2L)

Introduction

see Charcot-Marie-Tooth disease type 2

Pathology

• signs of axonal regeneration in the absence of obvious myelin alterations

Genetics

• associated with defects in HSPB8

Clinical manifestations

• progressive distal muscle weakness & atrophy

Diagnostic procedures

• nerve conduction velocity
  • normal or slightly reduced nerve conduction velocity

More general terms

• Charcot-Marie-Tooth disease type 2 (CMT2)

Database

• OMIM: https://mirror.omim.org/entry/608673