Myotonic dystrophy
نویسنده
چکیده
An unquiet life. Memoirs of a physician and cardiologist. This book is of unusual interest. It is not a history of cardiology in Belfast in the last forty years, though that is touched on in some of its aspects. It is the self-revelation of the remarkable man and physician who revolutionised the practice of cardiology in Belfast, in Ulster, and ultimately the world. He may not have meant it, but its chief interest is to trace the development of the boy from Hillsborough, through school and student days, through the dreadful sufferings of Japanese prisoner, of. war camps, through early postgraduate years, to being physician in charge of a ward unit in the Royal Victoria Hospital and the creator of a modern cardiological service. If that personality sometimes seems, and indeed was, assertive and combative, combativeness was essential if cardiology in Belfast was to be forced or dragged into the modern age, and into a new effectiveness. What the book does little to reveal is the fact that Frank Pantridge has a heart of gold. His cardiology was not merely electromechanical but humane. Many honours have come his way, the most distinguished being the immediate award, in the field, of the Military Cross, for gallantry in the face of the enemy. He has the esteem of thousands of patients, and of his colleagues. There is no doubt but that those profiting, and those generations still to profit, from Frank's work, will rise up to call him blessed. This will be a change for Frank, because great reforms cannot be effected without opposition, and, such is human nature, resentment. The style is admirable and so is the book production. The binding is secure. There is no index. There is only one misspelling. Everyone should buy this book. The proceeds go to the Heart Fund. Why should a monograph on a muscle diasease, written by a geneticist, be important to anaesthetists , cardiologists, diabetologists, gastroenterologists, obstetricians, ophthalmologists, orthopaedic surgeons, paediatricians and speech therapists? Because it is to them, rather than to neurologists, that most patients with myotonic dystrophy will present, and unfortunately these patients often pass through the hands of many doctors before the correct diagnosis is realised. Encounters between patients with myotonic dystrophy and the medical profession are seldom straightforward but matters are considerably simplified if the diagnosis is known. Professor Harper makes the point that this is a disease for …
منابع مشابه
Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
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The present report describes a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia. The mother was affected by myotonic dystrophy. A balanced 2/13 translocation was detected in the individual with syringomyelia, in one affected by myotonic dystrophy and in their clinically normal father. The association between the phenotypic anomalies and the chromosome alt...
متن کاملCongenital myotonic dystrophy with asymptomatic mother.
Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.
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Myotonic dystrophy is the most common type of muscular dystrophy in adults and is characterized by progressive myopathy, myotonia, and multiorgan involvement. Two genetically distinct entities have been identified, myotonic dystrophy type 1 (DM1 or Steinert's Disease) and myotonic dystrophy type 2 (DM2). Myotonic dystrophies are strongly associated with sleep dysfunction. Sleep disturbances in ...
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Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structural brain magnetic resonance imaging at 3 T (T(1)/T(2)/diffusion-weighted). Voxel-based morphomet...
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Patients with myotonic dystrophy are at particularly high risk for cancer arising in the endometrium, brain, colon, or ovary. Giant leiomyoma can occur in patients with myotonic muscular dystrophy, a disease accompanied by muscle wasting.
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ورودعنوان ژورنال:
- The Ulster Medical Journal
دوره 59 شماره
صفحات -
تاریخ انتشار 1990