Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome
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Updated: Jun 10, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
Michael Kottlors1, Wolfram Kress, Gerhard Meng
1Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Freiburg, Germany.
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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