Diagnostic challenges in facioscapulohumeral muscular dystrophy

Sacconi, S; Salviati, Leonardo; Bourget, I; Figarella, D; Pereon, Y; Lemmers, R; Van Der Maarel, S; Desnuelle, C.

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

Titolo:	Diagnostic challenges in facioscapulohumeral muscular dystrophy
Autori:	SACCONI S SALVIATI, LEONARDO BOURGET I FIGARELLA D PEREON Y LEMMERS R VAN DER MAAREL S DESNUELLE C. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2006
Rivista:	NEUROLOGY
Abstract:	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
Handle:	http://hdl.handle.net/11577/1565214
Appare nelle tipologie:	01.01 - Articolo in rivista

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