ABSTRACT

Introduction Neuromuscular disorders are common in women of childbearing age. Apart from acquired autoimmune neuromuscular diseases, such as multiple sclerosis and myasthenia gravis, which may be either suppressed or aggravated by pregnancy itself, and acquired compression neuropathies that can occur as a complication of pregnancy, a large number of inherited congenital neuromuscular disorders present specific problems during pregnancy. Although some of these disorders display mitochondrial inheritance, such as carnitine palmitoyltransferase defciency and cytochrome oxidase deficiency mitochondrial myopathy, the majority are transmitted according to a Mendelian inheritance pattern. This chapter reviews female-specific issues of the most common heritable neuromuscular disorders and considers aspects related to fertility and pregnancy.