title: Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome.
abstract: Several subtypes of facioscapulohumeral muscular dystrophy (FSHD) with atypical clinical presentation have been described. We report a new, distinct phenotype with progressive bent spine syndrome solely affecting the paraspinal muscles. Magnetic resonance imaging study of the lumbar spine revealed marked atrophy of the paraspinal muscles. The diagnosis was confirmed by DNA testing, which revealed shortened restriction fragments of the D4Z4 repeat on haplotype A in connection with a positive family history.
authors.affiliation: Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Freiburg, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Kottlors
authors.forename: Wolfram
authors.initials: W
authors.lastname: Kress
authors.forename: Gerhard
authors.initials: G
authors.lastname: Meng
authors.forename: Franz X
authors.initials: FX
authors.lastname: Glocker
mesh_terms: D000368:Aged; D006239:Haplotypes; D006801:Humans; D017116:Low Back Pain / Q000150:complications / Q000235:genetics; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000150:complications* / Q000235:genetics; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D013121:Spinal Curvatures / Q000150:complications* / Q000235:genetics