Congenital myopathy
Encyclopedia
Congenital myopathy is a term for any muscle disorder present at birth. By this definition the congenital myopathies could include hundreds of distinct neuromuscular syndromes and disorders. Congenital myopathies do not show evidence for either a progressive dystrophic
process (i.e., muscle
death) or inflammation
, but instead characteristic microscopic changes are seen in association with reduced contractile ability of the muscles. In general, congenital myopathies cause loss of muscle tone and muscle weakness in infancy and delayed motor milestones, such as walking, later in childhood.
, myotubular myopathy, central core myopathy, congenital fiber type disproportion
, and multicore myopathy. The term can also be used more broadly, to describe conditions present from birth.
Dystrophy
Dystrophy is any condition of abnormal development, often denoting the degeneration of muscles.-Types:* Muscular dystrophy* Duchenne muscular dystrophy* Becker's muscular dystrophy* Reflex neurovascular dystrophy* Retinal dystrophy* Conal dystrophy...
process (i.e., muscle
Muscle
Muscle is a contractile tissue of animals and is derived from the mesodermal layer of embryonic germ cells. Muscle cells contain contractile filaments that move past each other and change the size of the cell. They are classified as skeletal, cardiac, or smooth muscles. Their function is to...
death) or inflammation
Inflammation
Inflammation is part of the complex biological response of vascular tissues to harmful stimuli, such as pathogens, damaged cells, or irritants. Inflammation is a protective attempt by the organism to remove the injurious stimuli and to initiate the healing process...
, but instead characteristic microscopic changes are seen in association with reduced contractile ability of the muscles. In general, congenital myopathies cause loss of muscle tone and muscle weakness in infancy and delayed motor milestones, such as walking, later in childhood.
Types
The conditions included under the term "congenital myopathy" can vary. One source includes nemaline myopathyNemaline myopathy
Nemaline myopathy is a congenital, hereditary neuromuscular disorder that causes muscle weakness, generally nonprogressive, of varying severity....
, myotubular myopathy, central core myopathy, congenital fiber type disproportion
Congenital fiber type disproportion
Congenital fiber type disproportion is an inherited form of myopathy with small type 1 muscle fibers that may occur in a number of neurological disorders. It has a relatively good outcome and follows a stable course. While the exact genetics is unclear there is an association with TPM3, ACTA1...
, and multicore myopathy. The term can also be used more broadly, to describe conditions present from birth.