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- W2067041105 abstract "Spinal deformity is a frequent complication of muscular dystrophy and severe spinal curvature can have various harmful effects. Spinal deformity in patients with FCMD is also an important issue, but has not as yet been sufficiently studied. Herein, we characterize the features of spinal deformity in patients with FCMD. We retrospectively examined clinical symptoms and X-ray images of the full spines of 36 FCMD patients (mean age, 10.9 years [range, 1–3]; 19 girls, 17 boys; 27 with a homozygous 3 kb insertion mutation, nine with a heterozygous 3 kb insertion mutation). Spinal deformities were recognized in 20 patients, including eight with scoliosis plus a straight spine, three with scoliosis plus lordosis, seven with a straight spine, one with kyphosis, and one with lordosis. The curvature location was the thoracic in 3 (27.2%) and thoracolumbar in 8 (72.7%) patients. The laterality of scoliosis was right-sided in six and left-sided in five patients, with no significant difference. Maximum motor functions were no significant difference between patients with or without spinal deformities. The most common location of scoliosis in FCMD was the thoracolumbar junction, much as in DMD patients, while idiopathic scoliosis very often occurs in the thoracic region. Kyphosis is rare while lordosis is more often seen in FCMD, as compared to DMD patients. We speculate that these characteristic changes of spinal deformities arose from differences in maximum motor function and clinical course between the two. In contrast to DMD patients, those with FCMD showed severe muscle weakness and hypotonia of truncal muscles from the early infancy and their maximum motor functions are sitting or shuffling. Long term, an unnatural sitting postures can cause locked lumbar lordosis. In bedridden patients, the forced sitting position in a baby buggy may tend to produce spinal deformities." @default.
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- W2067041105 date "2012-10-01" @default.
- W2067041105 modified "2023-09-25" @default.
- W2067041105 title "G.P.14 Scoliosis in Fukuyama congenital muscular dystrophy (FCMD) patients" @default.
- W2067041105 doi "https://doi.org/10.1016/j.nmd.2012.06.048" @default.
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