Muscular dystrophy
نویسنده
چکیده
Are things clearer now? Yes. A breakthrough came in 1987 when the causative gene for the most common severe form of MD, Duchenne muscular dystrophy (DMD — the field is rich in eponyms, too) was found. Since then, the genes affected in many MDs have been discovered, enabling classification and diagnosis to be put on a much more secure footing. Some traditional disease categories have split as a result (recessive limb girdle muscular dystrophy — LGMD — now has eight subtypes), whereas others have merged. The flood of genes and gene products has provided much opportunity for new names including the protein that is missing in Fukuyama dystrophy (another eponym), memorably called Fukutin.
منابع مشابه
Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report
Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were sugges...
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Aim and Background: Becker’s muscular dystrophy (BMD) is similar to the Duchenne’s muscular dystrophy, but the clinical course is milder.We introduced a patient with Becker Muscle Dystrophy who candidate for emergency cesarean section.Case report:A36-year-old woman, gestational age 31 weeks, with a history of Becker Muscle Dystrophy and fetal distress who candidate for emergency cesarean sectio...
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Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
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Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...
متن کاملThe Diagnostic Value of Utrophin in Mild Dystrophinopathy (Becker Muscular Dystrophy)
Background and Objective: Becker Muscular Dystrophy (BMD) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. The frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. The diagnostic panel composed of Serum Ceratin Kinase (SCK) measurement, Electromyography (EMG), and as a major...
متن کاملEmery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
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ورودعنوان ژورنال:
- Current Biology
دوره 10 شماره
صفحات -
تاریخ انتشار 2000