Charcot-Marie-Tooth disease type 4B1 (CMT4B1)

Introduction

Also see Charcot-Marie-Tooth disease

Pathology

• demyelinating
• segmental demyelination & remyelination with onion bulb formations on nerve biopsy

Genetics

• autosomal recessive
• associated with defects in MTMR2

Clinical manifestations

• severe form of Charcot-Marie-Tooth disease
• slowly progressive distal muscle atrophy & weakness
• absent deep tendon reflexes
• hollow feet

Diagnostic procedures

• nerve conduction studies; severely reduced nerve conduction velocities (<38 m/sec)

More general terms

• Charcot-Marie-Tooth disease type 4 (CMT4)

Database

• OMIM: https://mirror.omim.org/entry/601382