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Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndrome
Author(s) -
Kottlors Michael,
Kress Wolfram,
Meng Gerhard,
Glocker Franz X.
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21722
Subject(s) - facioscapulohumeral muscular dystrophy , medicine , muscular dystrophy , myopathy , magnetic resonance imaging , atrophy , anatomy , pathology , radiology
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. Muscle Nerve 42:273–275, 2010