Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome.
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.
Kottlors
Michael
M
Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Freiburg, Germany.
Kress
Wolfram
W
Meng
Gerhard
G
Glocker
Franz X
FX
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