Congenital myopathies are a group of myopathies, usually present from birth, that display structural changes in the skeletal muscles. The list of diseases defined as congenital myopathies varies.

As of 2004, there is no cure for the congenital myopathies. The purpose of treatment, which is largely supportive, is to help patients optimize function and to manage any medical complications associated with the disorder.

Treatment for patients with mitochondrial myopathies is best performed by a neurologist and a clinical geneticist or specialist that has experience diagnosing, treating, and managing patients with mitochondrial myopathies

Persons with mitochondrial myopathies are referred to a clinical geneticist for management and further evaluation, particularly in the absence of a confident clinical diagnosis

The diagnostic criteria for mitochondrial myopathies involve phenotypic evaluation (or evaluation of observable traits), followed by laboratory evaluation