Nemaline and myotubular myopathies

Abstract

Nemaline myopathy is caused by mutations in one of at least six different genes. The clinical picture also varies widely, in terms of the grade and the distribution of muscle weakness. In familial cases, autosomal-recessive inheritance is more common than autosomal-dominant inheritance, and in some patients the disorder is caused by new dominant mutations. Because of the genetic heterogeneity and the large size of one of the genes commonly involved, that is, nebulin, no routine molecular genetic testing is yet available. Thus, the diagnosis often still rests on clinical and histologic criteria. Prenatal diagnosis can only reliably be performed in families where the causative mutation(s) have been identified. No clear-cut prognostic indicators are known, and treatment decisions can only be taken in casu. In the long-term management of patients with nemaline myopathy, respiratory capacity requires regular monitoring for early detection of insidious hypoventilation.