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Muscle Diseases: The Muscular Dystrophies
Annual Review of Pathology: Mechanisms of Disease, 2007Dystrophic muscle disease can occur at any age. Early- or childhood-onset muscular dystrophies may be associated with profound loss of muscle function, affecting ambulation, posture, and cardiac and respiratory function. Late-onset muscular dystrophies or myopathies may be mild and associated with slight weakness and an inability to increase muscle ...
Elizabeth M, McNally, Peter, Pytel
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2021
Muscular dystrophies (MDs) are a genetically heterogeneous group of degenerative muscle disorders with protein defects characterized by progressive muscle weakness and wasting of variable distribution and severity. Recent advances made in genetic medicine have highlighted the diversity of this group of disorders.
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Muscular dystrophies (MDs) are a genetically heterogeneous group of degenerative muscle disorders with protein defects characterized by progressive muscle weakness and wasting of variable distribution and severity. Recent advances made in genetic medicine have highlighted the diversity of this group of disorders.
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Archives of Neurology, 2004
X-linked bulbar and spinal muscular atrophy was comprehensively described by William R. Kennedy, and later the syndrome carried his name. It was the first triplet-repeat disease to be discovered. Recent transgenic experiments have shed some light on the underlying pathogenesis.
Michael, Sinnreich +1 more
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X-linked bulbar and spinal muscular atrophy was comprehensively described by William R. Kennedy, and later the syndrome carried his name. It was the first triplet-repeat disease to be discovered. Recent transgenic experiments have shed some light on the underlying pathogenesis.
Michael, Sinnreich +1 more
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Muscular Atrophy in Cardiovascular Disease
2018Currently, the number of chronic diseases has increased due to increasing in life expectancy of population. Among them, cardiovascular diseases (CVD) are the most prevalent and responsible for the high mortality and morbidity rates. Patients with CVD have metabolic, hemodynamic, and musculoskeletal changes.
Isadora Rebolho, Sisto +2 more
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Duchenne muscular dystrophy—Meryon's disease
Neuromuscular Disorders, 1993In a communication to the Royal Medical and Chirurgical Society of London in December 1851, which was published in the Transactions of the Society the following year, Edward Meryon, an English physician, described, in considerable detail, eight boys in three families with a disease later referred to as Duchenne muscular dystrophy.
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Duchenne Muscular Dystrophy (or Meryon's Disease)
The Lancet, 2001Abstract This disease is eponymously associated with the name Duchenne because this French physician described the condition in detail in the 1860s (Duchenne 1861; 1868). His contributions were concerned with the clinical description of the condition and the muscle histology findings.
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Congenital Muscular Dystrophy: Ullrich Disease
2014Ullrich first described a congenital form of “scleroatonic muscular dystrophy,” which is characterized by early-onset, generalized, and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints, and normal intelligence.
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Neurologic and Muscular Disease
2006An understanding of the basic pathophysiology of these neurologic conditions is essential for appropriate anesthetic care. Often, planned elective anesthetic consultation well in advance of delivery will ensure that all members of the team are knowledgeable and all issues regarding the particular condition are addressed.
Angela M. Bader, David Acker
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[Muscular diseases: epidemiology of progressive muscular dystrophies].
Minerva medica, 1981Epidemiology of muscular dystrophies has been important in the prevention of these diseases. In fact the genetic counselling, after a preliminary epidemiological investigation, reduced the incidence rate of Duchenne muscular dystrophy in the Veneto Region. Furthermore the new biochemical data on dismetabolic muscular diseases revealed a future strategy
E, Schergna, M, Armani
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Abberrant Muscular Insertions in Crouzon's Disease
Journal of Pediatric Ophthalmology & Strabismus, 1980Herein we present a case of Crouzon's disease with anomalous medial rectus formation and horizontal recti insertions. This adds a feature of the disease to the literature and reminds us to approach strabismus in orbital anomalies cautiously via a limbal peritomy.
A R, Captuo, R W, Lingua
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