نتایج جستجو برای: muscular disease
تعداد نتایج: 1522672 فیلتر نتایج به سال:
3-Methylhistidine excretion as an index of myofibrillar protein catabolism in neuromuscular disease.
Myofibrillar protein catabolism has been calculated in a variety of neuromuscular diseases from the amount of 3-methylhistidine excreted in the urine. It was found to be significantly raised in Duchenne type muscular dystrophy, motor neurone disease, polymyositis, and thyrotoxic myopathy. In Becker type muscular dystrophy the level was slightly raised. It was normal in scapuloperoneal and limb...
Spinal muscular atrophy and spinal and bulbar muscular atrophy are characterized by lower motor neuron loss and muscle atrophy. Although it is accepted that motor neuron loss is a primary event in disease pathogenesis, inherent defects in muscle may also contribute to the disease progression and severity. In this review, we discuss the relative contributions of primary pathological processes in...
Limb-girdle muscular dystrophies (LGMDs) is a heterogeneous group of muscular dystrophies that mostly affect the pelvic and shoulder girdle muscle groups. We report here a case of neuromuscular disease associated with Dupuytren's contracture, which has never been described before as cosegregating with an autosomal dominant type of inheritance. Dupuytren's contracture is a common disease, especi...
When we consider the Hirayama disease, a contradiction arises from the point of this criterion. According to De Freitas and Nascimento 4 , when MMA is restricted to the distal aspect of the upper limb, it is known as Hirayama disease. Hirayama disease has been called many different names: MMA, juvenile muscular atrophy of distal upper extremity, juvenile asymmetric segmental spinal muscular atr...
Less than a decade ago, patients diagnosed with Spinal Muscular Atrophy (SMA) had no treatments other pulmonary, gastrointestinal, and orthopedic care. These palliative were focused on managing symptoms did not address the cause of disease itself. Now, there are several FDA (U.S. Food Drug Administration) approved drugs to treat SMA, which can stop or slow progression. In order discuss developm...
Background: Spinal muscular atrophy includes a group of neuromuscular disorders characterized by degeneration of anterior horn cells in the spinal cord, and leads to progressive muscular weakness. NAIP is one of the genes that inhibits motor neuron apoptosis. Deletion of this gene is usually observed in type I SMI. The aim of this study was to investigate the frequency and pathogenicity of NAIP...
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