title: Diagnostic challenges in facioscapulohumeral muscular dystrophy.
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.
authors.affiliation: Féderation des maladies neuromusculaires, CHU de Nice and INSERM U638, Nice, France. sacconi@unice.fr
authors.forename: S
authors.initials: S
authors.lastname: Sacconi
authors.forename: L
authors.initials: L
authors.lastname: Salviati
authors.forename: I
authors.initials: I
authors.lastname: Bourget
authors.forename: D
authors.initials: D
authors.lastname: Figarella
authors.forename: Y
authors.initials: Y
authors.lastname: Péréon
authors.forename: R
authors.initials: R
authors.lastname: Lemmers
authors.forename: S
authors.initials: S
authors.lastname: van der Maarel
authors.forename: C
authors.initials: C
authors.lastname: Desnuelle
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D002894:Chromosomes, Human, Pair 4; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D017353:Gene Deletion; D018628:Gene Dosage; D006801:Humans; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000175:diagnosis; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D011110:Polymorphism, Genetic; D020080:Tandem Repeat Sequences