Myotonic Dystrophy
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Myotonic dystrophy is the most common form of adult muscular dystrophy, with a prevalence of 2-14 per 100,000 individuals. This autosomal dominant condition is manifested by myotonia, cardiac arrhythmias, cataracts, male pattern baldness, male infertility (hypogonadism), and other associated endocrinopathies. The age of onset and severity of the disease show extreme variation, both within and between families. The rare congenital form of myotonic dystrophy is associated with profound newborn hypotonia and mental retardation. Such children are invariably the offspring of affected mothers. The mothers frequently have mild or subclinical features of myo-tonic dystrophy. Complications of pregnancy in women with myotonic dystrophy include polyhydramnios, decreased fetal movements, intestinal pseudoobstruction, and approximately 15% perinatal mortality. The myotonic dystrophy gene has been cloned, and an unstable DNA sequence specific for the disease has been characterized. Female viagra online at discount canadian pharmacy. Detection of an enlarged DNA fragment due to the expansion of CTG repeat with the myotonic dystrophy gene can be used for direct DNA diagnosis in affected individuals and persons at risk. Furthermore, there is a strong correlation between the length of fragment expansion and the degree of disease severity in gene carriers. The gene containing the repeat has been designated motolin protein kinase. Prenatal diagnosis is available.
Huntington’s Disease
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Huntington’s disease is an autosomal dominant disorder that affects about 1 per 100,000 individuals. This progressive neurodegenerative disorder is characterized by motor disturbances, cognitive loss, and psychiatric manifestations. Affected individuals develop a distinctive choreic movement disorder that has an insidious onset in the fourth to fifth decade of life and gradually worsens over a period of 10-20 years until death. A juvenile form of Huntington’s disease exists, with a preponderance of paternal transmission of the disease. The gene (designated IT15) contains a polymorphic CAG repeat sequence. Unaffected individuals usually have about 11-24 CAG repeats, whereas patients with Huntington’s disease have 42-86 CAG repeats. The length of the repeat appears to correlate with the age of onset and severity of the disease. Although prenatal diagnosis is technically possible for this adult-onset disease, genetic counseling is complex and should be carried out in the context of a multidisciplinary team.
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