TY - JOUR
T1 - Extension of the clinical range of facioscapulohumeral dystrophy
T2 - Report of six cases
AU - Van Der Kooi, A. J.
AU - Rosenberg, N.
AU - De Visser, M.
AU - Visser, M. C.
AU - Van Den Berg-Vos, R.
AU - Wokke, J. H.J.
AU - Bakker, E.
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
KW - AMC wi-eigen
KW - Facioscapulohumeral muscular dystrophy
UR - http://www.scopus.com/inward/record.url?scp=0034125804&partnerID=8YFLogxK
U2 - https://doi.org/10.1136/jnnp.69.1.114
DO - https://doi.org/10.1136/jnnp.69.1.114
M3 - Article
C2 - 10864616
SN - 0022-3050
VL - 69
SP - 114
EP - 116
JO - Journal of Neurology Neurosurgery and Psychiatry
JF - Journal of Neurology Neurosurgery and Psychiatry
IS - 1
ER -