Charcot-Marie-Tooth disease type 4D (CMT4D)

Introduction

Also see Charcot-Marie-Tooth disease

Pathology

• demyelination of motor & sensory neurons
• distinct Schwann cell pathology

Genetics

• autosomal recessive
• associated with defects in NDRG1 gene

Clinical manifestations

• slowly progressive distal muscle atrophy & weakness
• absent deep tendon reflexes
• hollow feet

More general terms

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

Database

• OMIM: https://mirror.omim.org/entry/601455