Articles tagged with Hereditary neuropathy
Dejerine-Sottas syndrome (DSS) is a hereditary neuropathy is a severe phenotype of Charcot-Marie-Tooth disease (CMT). It is characterized by early-onset (first 2 years of life), delayed motor development, slow nerve conduction velocity and severe loss of myelinated fibers in nerve biopsy.
Charcot-Marie-Tooth (CMT) disease is a group of hereditary neuropathies, and represents one of the most common neurological conditions, characterized by a chronic motor and sensory polyneuropathy.
Hereditary sensory and autonomic neuropathy (HSAN) type 2 is a rare autosomal recessive disease that was first described by Ota et al in 1973 (1). We report the clinical and pathological findings of 2 siblings with HSAN type 2 due to a homozygous mutation in FAM134B.