The two most common forms can be differentiated with specific tests. In the acute inflammatory demyelinating polyneuropathy (AIDP) form, immune system reactions result in demyelination. It is diagnosed when nerve conduction studies show slowing of nerve conduction suggestive of demyelination in two or more motor nerves. Acute motor axonal neuropathy (AMAN) is diagnosed when nerve conduction studies show a reduction of compound muscle action potential without significant conduction slowing. Testing for serum antibodies to certain nerve components may be useful for confirming the diagnosis of Miller Fisher syndrome (MFS).
MDS was named for the two physicians, J. Miller and H. Dieker, who independently described the condition in the 1960s. The hallmark of MDS is lissencephaly, a condition in which the outer layer of the brain, the cerebral cortex, is abnormally thick and lacks the normal convolutions (gyri). In some areas of the brain, gyri are fewer in number but wider than normal (pachygyri). Other areas lack gyri entirely (agyri). Normally, during the third and fourth months of pregnancy, the brain cells in the baby multiply and move to the surface of the brain to form the cortex. Lissencephaly is caused by a failure of this nerve cell migration. MDS is often called Miller-Dieker lissencephaly syndrome. It is named for James Q. Miller  and H. Dieker.  JQ Miller described the disease and in 1969 H Dieker emphasized that it should also take the name lissencephaly syndrome because several malformations occur beyond the brain itself. When MDS was described in the beginning, geneticists assumed it followed an autosomal recessive pattern of inheritance. In the early 1990s, several patients with Miller–Dieker syndrome were found to be missing a small portion of the chromosome 17. () (a partial deletion).
A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)
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