A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker's muscular dystrophy for 20 years

• Published in: Age and ageing Vol. 41; no. 2; pp. 273 - 274
• Main Authors: Ramos, Vesper Fe Marie Llaneza, Thaisetthawatkul, Pariwat
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.03.2012; Oxford Publishing Limited (England)
• Subjects: Aged men; Alleles; Care and treatment; Case studies; Chromosomes, Human, Pair 4; Development and progression; Diagnosis; Diagnostic Errors; Elderly men; Genetic aspects; Genetic Predisposition to Disease; Genetic screening; Genetic Testing; Heredity; Humans; Inheritance; Male; Medical case management; Medical diagnosis; Medical examination; Methods; Middle Aged; Muscle Weakness - genetics; Muscles; Muscular dystrophy; Muscular Dystrophy, Duchenne - diagnosis; Muscular Dystrophy, Facioscapulohumeral - diagnosis; Muscular Dystrophy, Facioscapulohumeral - genetics; Muscular Dystrophy, Facioscapulohumeral - physiopathology; Muscular Dystrophy, Facioscapulohumeral - therapy; Muscular system; Older people; Pedigree; Phenotype; Predictive Value of Tests; Strength; Time Factors; Vitamin deficiency; Fasciscapulohumeral muscular dystrophy; progressive weakness; familial weakness; elderly
• ISSN: 0002-0729; 1468-2834
• DOI: 10.1093/ageing/afr095

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.