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Wohlfart Kugelberg Welander Syndrome

Published online by Cambridge University Press:  18 September 2015

R.T. Ross ,
Charles A. Simpson  and
Salma Styles
R.T. Ross*
Affiliation:
Section of Neurology, Winnipeg General Hospital and the University of Manitoba, Winnipeg, Canada
Charles A. Simpson
Affiliation:
Departments of Neurology, The Royal Jubilee Hospital, Victoria, British Columbia
Salma Styles
Affiliation:
Departments of Pathology, The Royal Jubilee Hospital, Victoria, British Columbia
*
132-404 Graham Avenue, Winnipeg R3C 0L6 Canada
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Summary

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A family is described with two brothers suffering from the Wohlfart Kugelberg Welander syndrome, and seven unaffected siblings. Another brother died in infancy from “a spinal disorder”. Both affected males developed symptoms in the third decade with weakness of the lower limb girdle, followed by the upper limb girdle. Both showed fasciculations, hyporeflexia, and purely lower motor neuron findings. EMG showed evidence of denervation and muscle biopsy showed neurogenic atrophy. Terminal motor latencies were slightly prolonged and one showed an elevated serum aldolase while both had elevated C.P.K.’s. Laboratory studies on some of the normal siblings were normal. The younger brother who has been seen over two years seems to have become slightly stronger.

Dermatoglyphics and chromosomal analysis have been carried out on the patients and some of the normal siblings. All were normal except for the younger affected brother who has persistently showed a high percentage of abnormal cells, though the basic karyotype was normal, and abnormal dermatoglyphics. This is the only case we have found in the literature with chromosome abnormalities. This pedigree suggests a recessive inheritance, possibly x linked.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 1 , Issue 2 , May 1974 , pp. 130 - 138
Copyright
Copyright © Canadian Neurological Sciences Federation 1974

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