Hereditary Neuropathy With Liability to Pressure Palsies: Diverse Phenotypes in Childhood.

Abstract excerpt

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal-dominant disorder that most commonly produces recurrent painless focal sensory and motor neuropathies often preceded by minor, mechanical stress, or minor trauma. Herein, we report 2 pediatric cases of HNPP with atypical presentations; isolated muscle cramping and toe walking. Electrophysiologic testing disclosed multifocal...

Topics

• Adolescent
• Arthrogryposis
• Electrodiagnosis
• Female
• Hereditary Sensory and Motor Neuropathy
• Humans
• Male
• Muscle Cramp
• Muscle, Skeletal
• Neural Conduction
• Phenotype