Genetic epidemiology of Scheuermann's disease

Abstract

Background and purposeThe genetic/environmental etiology of Scheuermann's disease is unclear. We estimated the heritability of the disease using an etiological model adjusted for sex and time of diagnosis, and examined whether the prevalence of Scheuermann's disease was constant over time.Methods46,418 twins were sent a questionnaire about health and disease. Of these, 75% returned the questionnaire and 97% answered the question “Have you been diagnosed as having Scheuermann's disease by a doctor?”ResultsResponders included 11,436 complete pairs of twins. Data were analysed using classical twin modeling methods. Tetrachoric correlations were used to decide which etiological model to fit. The best-fitting model was the AE model. Heritability was 0.74 (95% CI: 0.65–0.81), while variance explained by environmental factors was 0.26 (95% CI: 0.19–0.35). A threshold of 2.1 (95% CI: 1.9–2.2) was calculated, corresponding to a prevalence of 1.9% (95% CI: 1.3–2.8) for women. Regression coefficients for age and sex were 0.000 (95% CI: –0.003 to 0.002) and –0.32 (95% CI: –0.42 to –0.23).InterpretationWe found a heritability of 0.74 in Scheuermann's disease. The threshold in men was lower than in women, corresponding to a male prevalence that was almost twice that of females. We found no change in the prevalence of Scheuermann's disease throughout the 50-year age span that we examined.

An N‐Ethyl‐N‐Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion

“…Indeed, the most common forms of kyphosis and scoliosis in adolescents are nonsyndromic and include: Scheuermann disease3 a form of nonsyndromic kyphosis, which affects >8% of the population12; idiopathic scoliosis (IS), which affects approximately 2% to 3% individuals13, 14, 15, 16; and congenital nonsyndromic scoliosis, which is reported to have a prevalence of approximately 0.5 to 1 per 1000 individuals 9. Familial and twin studies have indicated a genetic basis for kyphosis17, 18, 19, 20 and scoliosis,21, 22, 23, 24, 25, 26, 27, 28 with likely genetic heterogeneity. However, studies aimed at defining the genetic abnormalities causing these spinal disorders have been hampered by their phenotypic and genetic heterogeneity, variable modes of inheritance,8, 29 and gene‐environment interactions that may modify the phenotypic expression 9.…”

Physical therapy on the conservative treatment on adolescent with Scheuermann’s Disease – a case report.

“…(2,4) The etiology is controversial, but factors such as hormonal changes, circulatory disorders and genetic factors appear to influence the onset of the disease. (2,5) The diagnosis is made by X-rays in profile was considered positive when at least three adjacent vertebrae submit a previous larger than 5° wedging. Scoliosis and decreased intervertebral joint space can also be found as radiological changes.…”

“…(3) occurs between 10-12 years of age and is characterized by the anterior plate disorder growth of the vertebral body, leading to deformity in kyphosis. (2) There is a decrease of physical fitness induced deformity, and social isolation, making the integration of these adolescents in society. (2,4) The etiology is controversial, but factors such as hormonal changes, circulatory disorders and genetic factors appear to influence the onset of the disease.…”

“…(2) There is a decrease of physical fitness induced deformity, and social isolation, making the integration of these adolescents in society. (2,4) The etiology is controversial, but factors such as hormonal changes, circulatory disorders and genetic factors appear to influence the onset of the disease. (2,5) The diagnosis is made by X-rays in profile was considered positive when at least three adjacent vertebrae submit a previous larger than 5° wedging.…”

“…The Scheuermann's disease is the most common cause of back pain in adolescents (1,2) with a predominance of male subjects. (3) occurs between 10-12 years of age and is characterized by the anterior plate disorder growth of the vertebral body, leading to deformity in kyphosis.…”