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Case Reports
. 2010 Aug;42(2):273-5.
doi: 10.1002/mus.21722.

Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome

Michael Kottlors  1 , Wolfram Kress, Gerhard Meng, Franz X Glocker
Affiliations
Case Reports

Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome

Michael Kottlors et al. Muscle Nerve. 2010 Aug.

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.

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