Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?

Abstract

We report on two unrelated Brazilian families with members affected by two different forms of muscular dystrophy. In the first one, the 35-year-old male proband has limb-girdle muscular dystrophy with proximal weakness, elevated creatine kinase and a myopathic muscle biopsy. All the proteins known to be associated with limb-girdle muscular dystrophy were normal. Two of his sisters also complained of muscle weakness. The oldest sister showed clinical signs consistent with facioscapulohumeral muscular dystrophy, confirmed through molecular analysis. She presented a 30 kb EcoRI/BlnI fragment which was found in another six relatives, but surprisingly not in the affected proband or the other sister. In the second family, a 57-year-old male with a typical facioscapulohumeral muscular dystrophy phenotype has a 17 kb EcoRI/BlnI fragment, which was also present in other affected relatives. However in a 14-year-old severely affected male cousin, confined to a wheelchair since age 12, but without facial weakness, the small fragment was absent. These families illustrate the importance of testing all affected individuals in a family.

• Authors: M M O Tonini, M R Passos-Bueno, A Cerqueira, R Pavanello, M Vainzof, V Dubowitz, M Zatz
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 12 Issue 6 Pg. 554-7 (Aug 2002) ISSN: 0960-8966 [Print] England
• PMID: 12117479 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Adolescent
• Adult
• Biopsy
• Brazil
• Chromosome Aberrations
• Electromyography
• Electrophoresis, Gel, Pulsed-Field
• Female
• Humans
• Male
• Middle Aged
• Muscle, Skeletal (physiopathology)
• Muscular Dystrophies (genetics, physiopathology)
• Muscular Dystrophy, Facioscapulohumeral (genetics, physiopathology)
• Pedigree
• Phenotype