Patients with familial dysautonomia suffer from a variety of problems related to dysfunction of the autonomic, sensory, and motor nervous systems. They also suffer from skeletal disorders such as kyphoscoliosis, arthropathies, and fractures. The disease is an inherited disorder, most commonly seen in Ashkenazi Jews. The inheritance is autosomal recessive and the gene has been mapped to the 9q31 chromosome. Maayan et al. (40) evaluated bone density and fracture prevalence in 79 patients with familial dysautonomia. The patients were 42 males and 37 females with a median age of 12.3 years. Bone density was measured at the PA lumbar spine and proximal femur with DXA (Hologic QDR 4500, Hologic QDR 1000, Lunar DPX, Lunar DPX-IQ). The bone density results were reported as z-scores, using the manufacturer's reference databases for calculation of the z-scores. At the PA lumbar spine, the mean z-score was -2.0. Fifty-three percent of the patients had lumbar spine z-scores of -2 or poorer. The mean femoral neck z-score was -2.1 with 54% having z-scores in this region that were -2 or poorer. The mean total hip z-score was -2.2. Fifty percent of the patients had total hip z-scores of -2 or poorer. The prevalence of fracture in this group of patients with familial dysautonomia was 53%. The overwhelming majority of these fractures were upper and lower limb fractures. The mean age for the occurrence of fracture was 9.1 years.
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