Myopathies: Congenital, Metabolic and Mitochondrial, and Channelopathies
Congenital myopathies (CM) are rare. This heterogeneous group of myopathies is characterized by generalized hypotonia and muscle weakness present at birth, hypoactive deep tendon reflexes with motor developmental delay, normal intelligence, and specific abnormalities on muscle biopsy . The weakness is usually stable or slowly progressive over time.
In parturients, respiratory involvement is essential to assess, because musculoskeletal changes can lead to scoliosis, with pulmonary impact and neuraxial technical challenges. Congenital myopathies include nemaline (most common CM), myotubular, central core, multicore, and cylindrical spiral myopathies and congenital fiber-type disproportion.
- 3.Central core disease was the first specific congenital myopathy to be described.
This myopathy is most clearly associated with malignant hyperthermia, both entities implying mutations in the ryanodine receptor gene on chromosome 19 [2, 3].
Muscle involvement, mainly proximal, is variable, as is its severity. Cardiac function is typically not impaired.
Congenital hip dislocation can also be seen; hence, the positioning during labor in parturients with that type of myopathy must be cautious .
KeywordsCongenital myopathies Pregnancy Central core disease Metabolic myopathies CPTD Mitochondrial myopathies Channelopathies Malignant hyperthermia Hyperkalemia Scoliosis Below is a brief discussion of inherited myopathies. For detailed information about muscular dystrophies, please see the section on “Myopathies: Muscular Dystrophies.”
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