Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases
- A J van der Kooia,
- M C Vissera,b,
- N Rosenberga,
- R van den Berg-Vosb,
- J H J Wokkeb,
- E Bakkerc,
- M de Vissera,b
- aDepartment of Neurology, Academic Medical Center, Department of Neurology, PO Box 22700, 1100 DE University of Amsterdam, The Netherlands, bUniversity Medical Centre, Utrecht, The Netherlands, cDepartment of Human Genetics, University of Leiden, The Netherlands
- Dr A J van der Kooia.j.kooi{at}amc.uva.nl
- Received 15 October 1999
- Revised 20 January 2000
- Accepted 6 March 2000
Abstract
Consensual diagnostic criteria for facioscapulohumeral dystrophy (FSHD) include onset of the disease in facial or shoulder girdle muscles, facial weakness in more than 50% of affected family members, autosomal dominant inheritance in familial cases, and evidence of myopathic disease in at least one affected member without biopsy features specific to alternative diagnoses.
Six patients did not meet most of these criteria but were diagnosed as FSHD by DNA testing, which showed small EcoRI fragments on chromosome 4q.
Their clinical signs and symptoms and results of auxiliary investigations are reported. The patients presented with foot extensor, thigh, or calf muscle weakness. None of them had apparent facial weakness, only one complained of weakness in the shoulders, none had a positive family history. Expert physical examination, however, showed a typical facial expression, an abnormal shoulder configuration on lifting the arms, or scapular winging. This raised the suspicion of FSHD, whereupon DNA analysis was done. In conclusion, the clinical expression of FSHD is much broader than indicated by the nomenclature. The possibility to perform DNA tests is likely to greatly expand the clinical range of FSHD.
