[Introduction to diagnosis of neuromuscular disorders]

Neuromuscular disorders are the most common progressive group of heterogenous disorders. There are considerable genetic heterogeneity in these group of disorders which show involvement of over hundreds genes in neuromuscular disorders. The major symptoms of neuromuscular disorders are generalized muscle weakness, extra ocular ophthalmoplagia, muscle wasting, respiratory and cardiac involvement and exercise intolerance. Since 1950 molecular diagnosis of neuromuscular disorders have been considerably developed and so with clinical evaluation of neuromuscular patients we can set up molecular and immunohisotchemical techniques. Classification of these disorders are as follow: 1- Myopathies muscular dystrophies, 2- Neuromuscular junction congenital myasthenia syndromes, 3- Neuropathies like Charcot- Marie -Tooth, Spinal Muscular Atrophy and 4- Motor neuron Disorders