Page22

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Title Exploring human heredity
Subject Heredity, Human; Medical genetics; Adaptation (Biology)
Description Twentieth Annual Frederick William Reynolds Lecture.
Creator Stephens, Fayette Ellsworth, 1890-
Publisher Extension Division, University of Utah
Date 1956-01-16
Date Digital 2008-05-29
Type Text
Format image/jpeg
Digitization Specifications Original scanned on Epson Expression 10000XL flatbed scanner and saved as 400 ppi uncompressed tiff. Display images generated in PhotoshopCS and uploaded into CONTENTdm Aquisition Station.
Resource Identifier http://content.lib.utah.edu/u?/reynolds,362
Source LD5526 .U8 n.s. v.47 no.11
Language eng
Relation Digital reproduction of "Exploring human heredity" J. Willard Marriott Library Special Collections
Rights Digital Image Copyright University of Utah
Metadata Cataloger Seungkeol Choe; Ken Rockwell
ARK ark:/87278/s64q7rxv
Setname uu_fwrl
Date Created 2008-07-29
Date Modified 2008-07-31
ID 319670
Reference URL https://collections.lib.utah.edu/ark:/87278/s64q7rxv

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Title Page22
Description 22 TWENTIETH ANNUAL REYNOLDS LECTURE eluded that these cases were due to mutations and that these mutations occurred at the rate of approximately one in ten thousand. Thus, in every 10,000 males born you could expect one case of childhood dystrophy which was due to a new mutation. The third type of muscular dystrophy is Myotonia dystrophica. It too is inherited as a Mendelian dominant. But in this type the gene produces a syndrome having one or more of a group of characteristics. Myotonia is the inability of the muscles to relax readily after contraction. Three hereditary forms of this disorder have been reported: Myotonia dystrophica, Myotonia congenita (Thompson's Disease), and Paramyotonia. All of these diseases are due to different dominant genes. The pattern of the disease is somewhat different in each instance, but myotonia is characteristic of all three. In Myotonia dystrophica, the gene causes a later age of onset than in the other two myotonias, usually occurring at about nineteen years of age. It not only produces myotonia but an entire syndrome including such things as atrophy of the sex glands, baldness, and a distinctive type of cataract. Sometimes only one characteristic of the syndrome is present in an individual, such as cataract or myotonia, while in others all of the characteristics are present. Cataract can be detected in practically all affected individuals. No matter how the gene is expressed in a person, it can be expressed in his descendants in any or all of its different forms, an interesting characteristic. Myotonia congenita differs from Myotonia dystrophica in that it is often congenital and does not have the other characteristics of the syndrome. It is difficult for a doctor to distinguish between Myotonia dystrophica where myotonia is the only characteristic of the syndrome present, and Myotonia congenita. In cases of this kind an examination of other affected members of the kindred is necessary. Paramyotonia, the third type, is very similar to Myotonia congenita except that it is associated with cold or change in temperature. In cold weather an affected person has to be careful about having his hands and face exposed to the cold for too long a period. Sometimes a sudden change in temperature or a draught might produce the condition. One patient told of hurrying to a class during summer school here at the university. She perspired freely, and when she arrived at her class she sat in front of an open window
Format image/jpeg
Identifier 022-RNLT-StephensF_Page22.jpg
Source Original Manuscript:Exploring human heredity by Fayette E. Stephens.
Setname uu_fwrl
Date Created 2008-07-29
Date Modified 2008-07-29
ID 319656
Reference URL https://collections.lib.utah.edu/ark:/87278/s64q7rxv/319656