Atypical Presentation of Hereditary Sensory and Autonomic Neuropathy Type IIB: A Family of HSAN IIB With Spasticity Presentation and Review on Sensory Neuropathies With Spasticity

ABSTRACT A 10‐year‐old boy from a consanguineous family presented with progressive lower‐limb spasticity and a family history of painless, non‐healing trophic ulcers of the lower limbs. Genetic testing identified a homozygous FAM134B mutation, confirming HSAN IIB and expanding its clinical spectrum with early pyramidal involvement.