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.
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Ahmadabadi et al. (2026) studied this question.
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