Charcot-Marie-Tooth disease type 4A (CMT4A)

Introduction

Also see Charcot-Marie-Tooth disease

Epidemiology

• autosomal recessive forms of CMT in including CMT4A least frequent

Pathology

• mixed pathology of axonal degenerative & demyelinating phenotypes

Genetics

• autosomal recessive
• associated with defects in GDAP1 gene

Clinical manifestations

• see Charot-Marie-Tooth disease (CMT)
• severe neuropathy of childhood
• early age of onset
• rapidly progressive distal weakness & atrophy of limbs
• inability to walk in late childhood or adolescence
• mild sensory loss

Laboratory

• GDAP1 gene mutation

Diagnostic procedures

• nerve conduction studies
  • severely decreased motor nerve conduction velocity

More general terms

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

Database

• OMIM: https://mirror.omim.org/entry/214400