Charcot-Marie-Tooth disease type 2P (CMT2P)

Introduction

see Charcot-Marie-Tooth disease type 2

Pathology

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

Genetics

• associated with defects in LRSAM1

Clinical manifestations

• progressive distal muscle weakness & atrophy
  • initially of the involves the peroneal muscles
  • later involves the distal muscles of the arms

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/614436