title: A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker's muscular dystrophy for 20 years.
abstract: A 60-year-old man diagnosed clinically with Becker's muscular dystrophy 20 years ago by another physician presented with gradually progressive proximal muscle weakness since teenage years. Family history revealed a strong paternal familial inheritance pattern of similar distribution of weakness-face, forearm flexion, knee extension and foot dorsiflexion. Work-ups revealed B12 deficiency and allele 1 deletion in fascioscapulohumeral muscular dystrophy (FSHD) DNA testing. FSHD is the third most common muscular dystrophy. Clinical diagnosis is made from the distinctive pattern of weakness, autosomal-dominant inheritance, and confirmed by genetic testing. This case strongly demonstrates the importance of a thorough and careful clinical evaluation even in a case with a long standing diagnosis.
authors.affiliation: Neurological Sciences, University of Nebraska Medical Center, 982045 Nebraska Medical Center, Omaha, NE 68198-2045, USA. vesper.ramos@yahoo.com
authors.forename: Vesper Fe Marie Llaneza
authors.initials: VF
authors.lastname: Ramos
authors.forename: Pariwat
authors.initials: P
authors.lastname: Thaisetthawatkul
mesh_terms: D002894:Chromosomes, Human, Pair 4; D003951:Diagnostic Errors; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis*; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D013997:Time Factors