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NEUROLOGY 2006;67:1464-1466
© 2006 American Academy of Neurology
Brief Communications

Diagnostic challenges in facioscapulohumeral muscular dystrophy

S. Sacconi, MD, L. Salviati, MD, PhD, I. Bourget, BS, D. Figarella, MD, Y. Péréon, MD, R. Lemmers, PhD, S. van der Maarel, PhD and C. Desnuelle, MD, PhD

From Fédération des Maladies Neuromusculaires (S.S., I.B., C.D.), CHU de Nice and INSERM U638, Nice, France; Servizio di Genetica Clinica (L.S.), Department of Pediatrics, Università di Padova, Italy; Laboratoire de Neuropathologie (D.F.), CHU Timone-Marseille, France; Laboratoire d'Explorations Fonctionnelles à la place de Clinique Neurologique (Y.P.), Hôtel-Dieu, Nantes, France; Leiden University Medical Center (R.L., S. vd M.), Center for Human and Clinical Genetics, Leiden, The Netherlands.

Address correspondence and reprint requests to Dr. Sabrina Sacconi, Féderation des maladies neuromusculaires, Archet 1, Route Saint Antoine de Ginestière, B.P. 3079, 06202 Nice, France; e-mail: sacconi{at}unice.fr

The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial myopathy, and one patient with combined FSHD and limb girdle muscular dystrophy 2A. Detailed clinical and genetic evaluation, including 4qA/4qB allele determination, may be needed for the diagnosis of FSHD.

Disclosure: The authors report no conflicts of interest.

Received February 22, 2006. Accepted in final form June 28, 2006.






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