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Hereditary Myopathy, Oligophrenia, Cataract, Skeletal Abnormalities and Hypergonadotropic Hypogonadism: A New Syndrome

Published online by Cambridge University Press:  01 August 2014

P.O. Lundberg
P.O. Lundberg*
Affiliation:
Department of Neurology, University Hospital, Uppsala, Sweden
*
Department of Neurology, University Hospital, 75014 Uppsala 14, Sweden

Abstract

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A new syndrome in three siblings, a man and two women, now aged 33-45 years, is described. The syndrome consists of the following symptoms:

1. Oligophrenia (IQ about 30, Terman-Merrill test) with harmonic infantilism.

2. Dense cataract with onset in childhood.

3. Myopathy, mainly affecting proximal muscles but also facial, masticatory, and external ocular muscles. The myopathy probably had its onset at puberty and progressed, in 2 of the 3 siblings until they were confined to a wheel chair.

4. Signs of pyramidal tract involvement and slight ataxia, probably congenital and nonprogressive.

5. Deficient speech development.

6. Skeletal changes including thoracic deformity, scoliosis, pes planovalgus, shortening of the fourth toe, and osseous dystrophy especially in the hands and feet.

7. Hypergonadotropic hypogonadism with primary amenorrhea in one of the sisters, very early menopause in the other and pronounced testicular atrophy in the brother. There were no signs of other endocrine insufficiency and the secondary sex characters, body hair distribution and libido were normal. The karyotype was normal in all three siblings. The heredity was considered to be probably autosomal recessive. Since, therefore, a number of independent organs were affected, the syndrome has been assumed to be caused by a penetrating metabolic defect the nature of which is unknown.

Type
6. Free Contributions: Second Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 245 - 247
Copyright
Copyright © The International Society for Twin Studies 1974

References

REFERENCES

Lundberg, P.O. 1973 a. Clinical evaluation of the luteinizing hormone-releasing hormone (LH-RH) test in cases with anatomically verified disorders of the hypothalamopituitary region. Acta Neurol. Scand, 49: 461–472.CrossRefGoogle ScholarPubMed
Lundberg, P.O. 1973 b. Hereditary myopathy, oligophrenia, cataract, skeletal abnormalities and hypergonadotropic hypogonadism: a new syndrome. Eur. Neurol, 10: 261–280).CrossRefGoogle ScholarPubMed
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Stålberg, E., Ekstedt, J. 1973. Single fibre EMG and microphysiology of the motor unit in normal and diseased human muscle. In Desmedt, J.E. (ed.): New Developments in Electromyography and Clinical Neurophysiology. [Vol. 1, pp. 113–129] Basel: Karger.Google Scholar