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August 1968

Kugelberg-Welander Disease: With Particular Reference to Sex-Influenced Manifestations

Author Affiliations

From the Department of Neurology, Institute of Brain Research and the Department of Internal Medicine, School of Medicine, University of Tokyo.

Arch Neurol. 1968;19(2):156-162. doi:10.1001/archneur.1968.00480020042004

SINCE the original descriptions of Wohlfart et al1 and Kugelberg and Welander2 there have been a number of reports of familial proximal neurogenic muscular atrophy. The principal findings of Kugelberg-Welander disease (K-W disease) consist of: (1) onset of muscle weakness in childhood or adolescence, (2) proximal muscle atrophy simulating muscular dystrophy, (3) very slow progression, (4) transmission as an autosomal recessive or dominant trait, and (5) neurogenic nature confirmed by electromyography or muscle biopsy.

We present here two families, in which both male and female siblings are affected with this disease. We emphasize the remarkable difference in the clinical findings and course between affected male and female siblings. These findings may provide some suggestions in the nosological study of this disorder.

Report of Cases 

Family I.—  The proband (B) was a 19-year old unmarried woman. She was one of fraternal twins and her parents were cousins (Fig

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