An hereditary sensory and autonomic neuropathy transmitted as an X-linked recessive trait.
Five members of a single family presented with neuropathic deformities and ulceration of the feet developing in the first and second decades of life, and progressed slowly over many years. In this form of hereditary sensory and autonomic neuropathy, there was minimal tendon reflex impairment, cutaneous sensory impairment was restricted to the feet, and there was no autonomic dysfunction. The only neurophysiological abnormality was that of reduced or absent sural nerve sensory action potentials. Sural nerve biopsies taken from two affected family members showed changes of a chronic neuropathy with loss of myelinated fibres, particularly affecting those of small diameter. Unmyelinated fibres were present in normal numbers. This condition differed from other forms of hereditary sensory and autonomic neuropathy having an X-linked recessive mode of inheritance.
D000293:Adolescent; D000328:Adult; D001342:Autonomic Nervous System Diseases / Q000235:genetics*; D001706:Biopsy; D002648:Child; D005808:Genes, Recessive; D008040:Genetic Linkage; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D009431:Neural Conduction; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013497:Sural Nerve / Q000473:pathology; D014960:X Chromosome