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Camptocormia phenotype of FSHD: a clinical and MRI study on six patients
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Camptocormia phenotype of FSHD: a clinical and MRI study on six patients
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Journal Article
Camptocormia phenotype of FSHD: a clinical and MRI study on six patients
2011
Overview
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.
Publisher
Springer-Verlag,Springer,Springer Nature B.V
Subject
/ Aged
/ Atrophy
/ Biological and medical sciences
/ Disease
/ Female
/ Genetics
/ Humans
/ Male
/ Medicine
/ Muscle, Skeletal - pathology
/ Muscular Atrophy - pathology
/ Muscular Atrophy, Spinal - etiology
/ Muscular Atrophy, Spinal - pathology
/ Muscular Dystrophy, Facioscapulohumeral - complications
/ Muscular Dystrophy, Facioscapulohumeral - pathology
/ Patients
/ Spinal Curvatures - etiology
