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• Vol.42 No.4
• CLINICA NEUROL, 42: 313−316, 2002
• Vol.42 No.4 contents

Brief Clinical Note

An ambiguous pedigree of facioscapulohumeral muscular dystrophy which showed double EcoRI/BlnI resistant short fragments

Tsuyoshi Matsumura, M. D. ^{1) 2)}, Masaki Etoh, M. D. ^{1) 3)}, Kanako Goto, B. S. ²⁾, Toshio Saito, M. D. ¹⁾, Sonoko Nozaki, M. D. ¹⁾, Harutoshi Fujimura, M. D. ³⁾ and Susumu Shinno, M. D. ¹⁾

¹⁾Department of Neurology, Toneyama National Hospital
²⁾Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Japan
³⁾Department of Neurology, Osaka University Graduate School of Medicine

We report a facioscapulohumeral muscular dystrophy (FSHD) pedigree having double short (25 kb and 33 kb) BlnI resistant (4q-like) fragments.
Two of three male siblings developed shoulder-girdle weakness and minimum facial involvement from their adolescence. Although the rest (third) brother had non-progressive hemi-palsy in face and upper-extremity and strabismus caused by birth trauma, he had no clinical symptoms of FSHD. Mother presented mild shoulder weakness after cholecystectomy at the age of 50 years, but with no facial involvement and normal serum creatin kinase (CK) level (45 IU/L). On the contrary, father had high CK level (450 IU/L) despite no neurological abnormalities.
After EcoRI/BlnI double digestion, two short fragments were detected in the two affected siblings. Then, all family members were examined to determine pathognomonic fragment. Consequently, mother (25 kb and 90 kb) and the third non-affected brother (25 kb and 51 kb) had two 4q-like fragments, however, three 4q-like fragments were detected in father (33 kb, 51 kb and 130 kb), proband (25 kb, 33 kb and 130 kb) and affected brother (25 kb, 33 kb and 51 kb). These findings revealed that the 4q-like 33 kb fragment actually located on 10q26 through inter-chromosomal exchange. Thus the 25 kb fragment inherited from mother was determined as co-segregating with the disease. To ensure genetic diagnosis for FSHD, investigation of family members is surely required.

(CLINICA NEUROL, 42: 313−316, 2002)
key words: facioscapulohumeral muscular dystrophy (FSHD), genetic analysis, EcoRI/BlnI double digestion test, inter-chromosomal exchange

(Received: 28-Feb-02)