Congenital myopathy is a term that can be applied to hundreds of neuromuscular disorders that are present at birth. Normally, he is but a group of rare primary muscle disorders reserved that can cause hypotension and weakness at birth or in the neonatal period and in some cases, a motor delay later in childhood.
The four most common types of congenital myopathy are
Congenital myopathy is a term that can be applied to hundreds of neuromuscular disorders that are present at birth. Normally, he is but a group of rare primary muscle disorders reserved that can cause hypotension and weakness at birth or in the neonatal period and in some cases, a motor delay later in childhood. The four most common types of congenital myopathy are Nemaline myopathy centronuclear myopathy core myopathy Congenital myopathy Faserdisproportion These four types can be primarily distinguished by their histology, their symptoms and prognosis. Diagnosis is based on typical clinical findings and is confirmed by a muscle biopsy. Treatment is supportive and consists of physical therapy, which helps to maintain muscle function. Nemaline myopathy This myopathy, the most common congenital myopathy may be autosomal dominant or recessive. Causative mutations have been identified in six genes and are all related to a production of thin-filament proteins. The nemaline myopathy may run hard, moderate or mild. Severely affected patients may have weakness of the respiratory muscles and as a result develop respiratory failure. The moderate form causing progressive weakness of the muscles of the face, neck, chest and legs, but the life expectancy can be almost normal. The mild form does not progress and has a normal life expectancy. Centronuclear myopathy This is X-linked myopathy and rare. It occurs in about 1 in 50,000 births. The X-linked form affects only males and causes severe muscle weakness and hypotonia, facial weakness, impaired swallowing, and weakness of the respiratory muscles and respiratory failure. Children with milder forms survive to adulthood. Core myopathies Inheritance is usually autosomal dominant, but there are also recessive and sporadic forms. Core myopathies are by regions (cores) refers to muscle biopsy samples where missing an oxidative enzyme staining. These areas may be peripheral or central, focal, multiple or wide area. The central core myopathy was the first congenital myopathy has been identified. Most affected patients develop hypotension and low proximal muscle weakness as neonates, but occasionally show symptoms until adulthood. Many also suffer from a weakness of the facial muscles. The weakness is not progressive, and life expectancy is normal, but some patients are severely affected and confined to a wheelchair. The associated with the central core myopathy gene mutation is also associated with increased susceptibility to malignant hyperthermia in context. Congenital myopathy Faserdisproportion This myopathy is inherited, but the means of inheritance is not clear. Hypotension and weakness of the face, neck, thorax and extremities muscles is often accompanied by skeletal abnormalities and dysmorphic features. improve the most affected children developed respiratory insufficiency with age, but a small percentage.