Kurth et al. (2009) reported 4 unrelated families with autosomal recessive inheritance of hereditary sensory and autonomic neuropathy. The families were from Saudi Arabia, Turkey, Italy, and Dubai; 2 families were known to be consanguineous. Onset occurred in ... Kurth et al. (2009) reported 4 unrelated families with autosomal recessive inheritance of hereditary sensory and autonomic neuropathy. The families were from Saudi Arabia, Turkey, Italy, and Dubai; 2 families were known to be consanguineous. Onset occurred in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet were common. Sensory function was severely impaired, and nerve conduction studies showed axonal sensory, and sometimes mild motor, neuropathy, primarily in the lower limbs. Sural nerve biopsies, when performed, confirmed axonal neuropathy. Autonomic dysfunction included hyperhidrosis, urinary incontinence, and slow pupillary light response. The phenotype was consistent with HSAN type II.
In affected members of 4 unrelated families with hereditary sensory and autonomic neuropathy type IIB, Kurth et al. (2009) identified 4 different homozygous truncating loss-of-function mutations in the FAM134B gene (613114.0001-613114.0004).