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Biomedical subjects

A E Emery

Publications and source records attributed to A E Emery.

At least 19 recordsLinked to original sources
PubMed1991

Population frequencies of inherited neuromuscular diseases--a world survey.

A survey of the world literature, involving over 150 reported studies, of the population frequencies of various inherited neuromuscular diseases has been carried out. Data are presented for the commoner forms of muscular dystrophy (Duchenne, Becker, facioscapulohumeral, limb girdle), myotonic dystrophy and congenital myotonias, proximal spinal muscular atrophies, and the hereditary motor and sensory neuropathies. A conservative estimate of the overall prevalence among both sexes is around 286 x 10(-6), that is 1 in 3500 of the population may be expected to have a disabling inherited neuromuscular disease presenting in childhood or in later life. If severe disorders manifest only in infancy and early childhood (e.g. Werdnig-Hoffmann disease and severe congenital muscular dystrophy) and the rare forms of dystrophy and myopathy are also included, then the overall prevalence could well exceed 1 in 3000.

Humans↗
PubMed1990

Developments in the new genetics.

The advent of recombinant DNA has introduced novel ways of diagnosing genetic disorders. The application of these techniques in affected families, coupled with genetic counselling, should help prevent the recurrence of a proportion of cases, and thereby reduce a considerable amount of suffering, and in some cases the expense of caring for a severely affected individual. However, such aims may be achieved only when the importance of such services is more widely recognized and they become more generally available. Counselling and prenatal diagnostic services have been available in University Centres of Medical Genetics for at least the last 20 years yet still only a proportion of the population at risk avail themselves of these services. The role of Health Departments in ensuring that those at risk are aware of and then use these facilities is clear. Health education must play an important role in this regard. Furthermore, there is a real need for financial support to employ adequately trained medical and technical staff in such centres. Currently, these problems are being debated by such bodies as the Clinical Genetics Society and the Royal College of Physicians. With the co-operation, help and support of Public Health Departments in the future, these exciting developments will not remain within the confines of research laboratories but will be extended to the community at large. In this way all those at risk in the population can benefit.

DNA, Recombinant↗
PubMed1989

Emery-Dreifuss muscular dystrophy and other related disorders.

There are some 30 or so different forms of muscular dystrophy which are conveniently classified according to the mode of inheritance. Emery-Dreifuss X-linked muscular dystrophy is characterized by the triad of: (1) early contractures of the elbows, Achilles tendons and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humero-peroneal distribution in the early stages; and (3) a cardiomyopathy usually presenting as heart-block. The insertion of a cardiac pace-maker can be life saving and therefore the recognition of the condition is essential. The responsible gene has been localized to Xq28. The autosomal recessive dystrophies are classified into congenital forms (the Fukuyama type is particularly common in Japan); a childhood form (similar to Duchenne) which occurs frequently in certain inbred communities; and adult onset limb girdle dystrophy. The autosomal dominant dystrophies are classified on the distribution of predominant muscle weakness into facioscapulohumeral, scapuloperoneal (with or without early contractures and cardiomyopathy), proximal, distal and ocular forms. The basic biochemical defects and the localizations of the responsible genes are as yet unknown in any of the autosomal recessive or autosomal dominant dystrophies.

Female↗
PubMed1989

Emery-Dreifuss syndrome.

Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages; and (3) a cardiomyopathy usually presenting as heart block. The early recognition of the condition is essential because the insertion of a cardiac pacemaker can be life saving. The disorder is usually inherited as an X linked recessive trait (linked to DNA markers around Xq28). However, occasionally it can be inherited as an autosomal dominant trait and there is an indication that this and the X linked form may in some cases have a neurogenic basis. For these reasons it has recently been proposed that the appellation 'Emery-Dreifuss syndrome' be used for this triad of symptoms and signs.

Cardiomyopathies↗
PubMed1989

Joseph Adams (1756-1818).

Joseph Adams was eclectic in his interests and wrote on a variety of medical subjects. His last book published in 1814 was on hereditary disease and based on a lifetime's careful clinical observations. In it he distinguished between what would now be defined as dominant and recessive disorders; defined the term congenital; emphasised the role of inbreeding in producing clustering of certain inherited disorders; introduced concepts now known as founder effect, incomplete penetrance, and variable age at onset; emphasised the importance of environmental factors in precipitating disease in certain genetic disorders; and, finally, recommended the establishment of registers for the purpose of preventing genetic disease. But because he proposed no scientific explanation for these various ideas, they were largely ignored by his contemporaries. Nevertheless, it would seem right to regard Joseph Adams as perhaps the first clinical geneticist.

England↗
PubMed1989

Clinical and molecular studies in Duchenne muscular dystrophy.

X-linked DMD is a serious condition characterized by progressive muscle wasting and weakness and death ensues in the late teens or early twenties. There is considerable clinical variability even within families and some suggestions of genetic heterogeneity. Though skeletal muscle is primarily involved, other tissues are also affected including cardiac and smooth muscle. Other abnormalities include mental retardation, thymus hyperplasia and possibly certain endocrinological changes. The responsible locus is at Xp21 and the gene product is a very large protein (dystrophin) which is normally localised to muscle cell membranes. It is hypothesised that its absence in DMD may result in instability of the muscle cell membrane with resultant ingress of calcium, an increase in intracellular calcium, and cell death. An understanding of this pathway is important in devising an effective treatment.

Animals↗
PubMed1988

John Dalton (1766-1844).

There is no doubt that John Dalton ranks among the great names in science, a position which rests on his enunciation of the Atomic Theory. However, his very first scientific paper in 1798 was concerned with his own affliction of colour blindness and was in fact the first clear description of the disorder. This publication stimulated much subsequent research into the pathophysiology and genetics of the condition. His recorded observations on colour blindness are detailed and precise and betoken the approach which was to characterise all his later research in chemistry.

Color Vision Defects↗
PubMed1988

Pierre Louis Moreau de Maupertuis (1698-1759).

Maupertuis was one of the most important scientists and original thinkers of the 18th century. He refuted the preformationist theories of the time, and from his study of the inheritance of genetic traits proposed various ideas which forecast the genetic theory of inheritance. He applied the concept of probability to genetic problems and introduced experimental breeding as a means of studying the inheritance of genetic traits in animals. However, he considered his greatest contribution to science to be the 'Principle of Least Action'. Yet paradoxically it was this, through the vitriolic attacks by Voltaire which it engendered, which resulted in his work being largely ignored until recent times.

France↗
PubMed1987

X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).

The original Virginia family with X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type) has been reinvestigated 25 years later. The findings confirm that a cardiomyopathy, presenting most often as atrioventricular block, is a significant feature of the disease, which is characterized by the triad of: 1) slowly progressive muscle wasting and weakness with a humero-peroneal distribution in the early stages; 2) early contractures of the elbows, Achilles tendons, and post-cervical muscles; and 3) a cardiomyopathy usually presenting as heart block (some female carriers may also develop heart block). Other reported families with X-linked Emery-Dreifuss muscular dystrophy as well as a rare autosomal variant are reviewed, and differentiation from scapulo-peroneal muscular dystrophy and the rigid spine syndrome is discussed.

Contracture↗
PubMed1986

Risk estimation in autosomal dominant disorders with reduced penetrance.

The occurrence in a family of an isolated case of an autosomal dominant disorder with reduced penetrance presents a difficult problem in genetic counselling. It is shown that in such a situation the risk of recurrence in subsequent offspring is given by: (formula; see text) where P is the penetrance (0 less than P less than 1) and f' the relative fitness (0 less than f' less than 1) of affected individuals. In all cases the risks of recurrence will exceed 1 in 20 unless penetrance is high (greater than 0.90) and the relative fitness of affected persons is low (less than 0.6).

Gene Expression Regulation↗
PubMed1979

Prospective study of genetic counselling.

A prospective study was carried out on 200 consecutive subjects seen for counselling (consultands) for serious genetic disorders. Educational and social background of consultands and their knowledge and understanding of their particular problem were assessed before counselling, and their response was determined immediately afterwards and three months and two years later by an independent observer not concerned in the genetic counselling. The husband's educational background was particularly important in influencing a couple's comprehension of counselling. X-linked recessive and chromosomal disorders presented the most difficulties in comprehension. The counsellors' assessment of comprehension was a good guide to the consultands' comprehension as assessed at subsequent follow-up. The proportion deterred from having children increased with time and over a third had been sterilised within two years of counselling. It is suggested that follow-up after counselling should be routine, especially when the counsellor suspects that comprehension has not been good, in X-linked recessive and chromosomal disorders, and when the risks of having an affected child are considered to be high.

Adult↗
PubMed1979

Antenatal diagnosis of Duchenne muscular dystrophy.

As a means of assessing the value of fetal serum-creatine-kinase (S.C.K.) levels in the antenatal diagnosis of Duchenne muscular dystrophy (D.M.D.), fetal muscle from control and at-risk fetuses was studied histologically and the findings were related to fetal S.C.K. levels. Of 7 at-risk fetuses 4 were believed to have normal muscle and all these had normal S.C.K. levels. However, of 3 fetuses with abnormal muscle only 1 had a raised S.C.K. level. At present caution should be exercised in offering antenatal diagnosis in D.M.D. on the basis of fetal S.C.K. levels.

Creatine Kinase↗
PubMed1979

A study of possible heterogeneity in Duchenne muscular dystrophy.

One possible explanation for the apparently high birth incidence of Duchenne muscular dystrophy (DMD), a lethal X-linked disorder, is genetic heterogeneity. As a first step in possibly demonstrating genetic heterogeneity, affected boys were sub-divided into those with and without severe mental handicap. In those with severe mental handicap, ages at onset and of becoming confined to a wheelchair were later, the fall in SCK level with age was less marked, and the urinary excretion of certain aminoacids was greater than in affected boys with normal intelligence. Though the number of subjects investigated was relatively small (15 in each group) and further studies are therefore needed, the results suggest that DMD may not be a single disease entity.

Adolescent↗
PubMed1979

Serum LDH-5 in carriers of Duchenne muscular dystrophy.

We failed to confirm the suggestion that serum lactate dehydrogenase isoenzyme 5 (LDH-5) levels are as sensitive an indicator of the carrier status in Duchenne muscular dystrophy (DMD) as are serum levels of creatine kinase. In particular, serum LDH-5 was not increased in carriers when the serum creatine kinase level was normal.

Adolescent↗