Muscular Dystrophy and Related Disorders
نویسندگان
چکیده
منابع مشابه
Muscular Dystrophy and Related Disorders.
Classification Various types of muscular dystrophy are recognised on the basis of different clinical patterns and different modes of inheritance. The pathological changes in the muscle are similar in character in the different types, but may vary considerably in severity. The various myotonic syndromes are usually also included under the broad definition of muscular dystrophies, but differ from...
متن کاملNeuromuscular Disorders Duchenne Muscular Dystrophy
TOUCH MEDICAL MEDIA Duchenne muscular dystrophy (DMD) is an X-linked disorder affecting one in 5,000 live male births which makes it the most common and most severe form of muscular dystrophy. The absence of the protein dystrophin leads to symptom onset typically between the ages of two to five years, with abnormal gait and frequent falls being hallmark signs. Other signs may include delays in ...
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A benign Becker muscular dystrophy (BMD) patient with a marked decrease in dystrophin exhibited remarkable expression of dystrophin-related protein (DRP) on most of the muscle cell membrane. A phenotypic Duchenne muscular dystrophy patient with a truncated form of dystrophin exhibited no DRP expression on the muscle cell membrane except for the neuromuscular junction. Increased DRP expression m...
متن کاملAssessment of Sleep-Related Breathing Disorders in Patients With Duchenne Muscular Dystrophy
BACKGROUND Respiratory failure is a significant cause of morbidity and mortality in neuromuscular diseases. Although clinical findings and respiratory function tests aid in diagnosing sleep-related breathing disorders, polysomnography is the gold standard for the diagnosis of these disorders. We aimed to investigate the role of sleep-wake symptoms and clinical findings of patients with Duchenne...
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congenital muscular dystrophy (cmd) is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...
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ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 1965
ISSN: 0032-5473
DOI: 10.1136/pgmj.41.476.332