Background: Familial dysautonomia is a hereditary
multisystemic disease primarily affecting people of Ashkenazi Jewish
descent. Musculoskeletal problems are related to gait disorders,
spinal deformities, foot deformities, fractures, and arthropathies.
Methods: The charts and radiographs of 136 patients
who ranged in age from three months to forty-six years (mean, sixteen
years) were reviewed. Sixty-four patients were available for follow-up
Results: Spinal deformity was the most common
orthopaedic problem and was diagnosed in seventy-eight patients
starting at the age of four years, with a prevalence of 86 percent
(forty-eight of fifty-six) by the age of fifteen years. Forty-one
(53 percent) of the seventy-eight patients had scoliosis only, thirty-four
(44 percent) had kyphoscoliosis, and three (4 percent) had kyphosis
only. Bracing was accompanied by emotional, pulmonary, and skin problems,
leading to a high rate of noncompliance and progression of the curve.
Twenty-four patients had an operation at a mean age of thirteen
years (range, five to eighteen years): twenty patients had posterior
spinal arthrodesis, and four had combined anterior and posterior
arthrodesis. Fifteen patients had a total of nineteen complications,
of which seven were systemic and twelve were related to the spinal
fixation. Eight patients had revision surgery. At the time of the
surgery, scoliosis was corrected from a mean of 55 degrees to a
mean of 35 degrees and kyphosis was corrected from a mean of 69
degrees to a mean of 61 degrees.
After a mean duration of follow-up of sixty-five months, scoliosis
measured 49 degrees (range, 18 to 62 degrees) and kyphosis measured
67 degrees (range, 30 to 115 degrees). Postoperative progression
of the deformity was caused by failure of the instrumentation or
progression in unfused segments. Walking was delayed in 72 percent
(ninety-four) of the 130 patients who were of walking age. All sixty-four
of the patients who were examined had an ataxic gait. Foot deformities
were found in sixteen patients, six of whom were treated surgically.
Two patients had Charcot joints. Fifty-five patients sustained at
least one fracture before skeletal maturity, with a mean of 1.5
fractures per patient. All but one of the fractures was treated nonoperatively,
and fracture-healing was often accompanied by profuse callus formation.
Conclusions: Spinal deformity is common in patients
with familial dysautonomia. Bracing is of questionable benefit,
and surgical intervention should be considered once curve progression
is well documented. Arthrodesis should be extended as far proximally
as possible to prevent junctional kyphosis. Swelling and warmth
in a limb should raise suspicion of an undiagnosed fracture.