title: FSHD-like patients without 4q35 deletion.
abstract: Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive weakness and wasting of facial, shoulder-girdle and upper arm muscles. Despite of the characteristic clinical features, the diagnosis of FSHD is sometimes difficult because clinical symptoms are extremely variable including facial sparing type, limb-girdle type, and distal myopathy type. Most of the FSHD patients have a deletion in the subtelomeric region of chromosome 4q35 (FSHMD1A), however the linkage analysis in some families suggested genetic heterogeneity. In the present study, we identified 40 patients without a deletion in the 4q35 region (non-4q35del) among 200 Japanese patients who were clinically suspected to have FHSD. All non-4q35del patients had shoulder-girdle weakness and 75% also had facial weakness. Eight patients showed clinical features that were indistinguishable from FSHD, but two of them had Becker muscular dystrophy. FSHD is clinically, and most likely genetically, as well, variable. Other forms of muscular dystrophy can also mimic FSHD.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan.
authors.forename: Gaku
authors.initials: G
authors.lastname: Yamanaka
authors.forename: Kanako
authors.initials: K
authors.lastname: Goto
authors.forename: Tadayuki
authors.initials: T
authors.lastname: Ishihara
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Oya
authors.forename: Tasuku
authors.initials: T
authors.lastname: Miyajima
authors.forename: Akinori
authors.initials: A
authors.lastname: Hoshika
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002894:Chromosomes, Human, Pair 4; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000235:genetics; D019066:Facies; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology*; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics* / Q000473:pathology*
chemical_list: D016189:Dystrophin