Classification of Neuromuscular Diseases

Abstract

Neuromuscular disorders are those diseases that involve the motor nuclei of the cranial nerves and anterior horn cells of the spinal cord, the peripheral nerves, the neuromuscular junction, and/or muscle itself.¹ They can be classified according to many different features. In addition to the site of the lesion, they can be differentiated into hereditary and acquired disorders. Hereditary disorders can be subdivided into those with abnormalities of the nuclear or mitochondrial genome. Their mode of inheritance may be autosomal dominant or autosomal recessive, X-linked dominant (very rare) or X-linked recessive. In the case of acquired diseases the next step of classification usually is to order them according to their etiology (e.g., inflammatory, endocrine, toxic). The World Federation of Neurology² proposed a classification that includes all these aspects. Generally, the neurogenic disorders are classified according to the site of the major pathological process, and myopathies according to whether they are hereditary or acquired.³ Table 11.1 lists a considerably abbreviated classification of the World Federation of Neurology, omitting particularly rare disorders.