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Journal of Neurology

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01.05.2011 | Original Communications

Camptocormia phenotype of FSHD: a clinical and MRI study on six patients

verfasst von: Berit Jordan, Katharina Eger, Sabrina Koesling, Stephan Zierz

Erschienen in: Journal of Neurology | Ausgabe 5/2011

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Abstract

Recently it has been postulated that there is an atypical facioscapulohumeral muscular dystrophy (FSHD) phenotype with isolated axial myopathy. Involvement of paraspinal and limb muscles was evaluated in six patients with molecularly proven FSHD and a predominant bent spine phenotype. Consistent with the camptocormia phenotype, the most severely affected muscles in all six patients were the thoracic and lumbar spinal tract together with hamstrings. MRI disclosed severe axial muscle degeneration but mostly subclinical involvement of limb muscles. The involvement of hip extensor muscles in FSHD might considerably contribute to the clinical phenotype of camptocormia due to axial muscle involvement.

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Titel: Camptocormia phenotype of FSHD: a clinical and MRI study on six patients
verfasst von: Berit Jordan
Katharina Eger
Sabrina Koesling
Stephan Zierz
Publikationsdatum: 01.05.2011
Verlag: Springer-Verlag
Erschienen in: Journal of Neurology / Ausgabe 5/2011
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-010-5858-z

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