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Congenital myopathy


Synonym(s):   Thomsen's Myotonia, Becker's Myotonia

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. In general, congenital myopathies cause loss of muscle tone and muscle weakness in infancy and delayed motor milestones, such as walking, later in childhood. Three distinct disorders are definitively classified as congenital myopathies: central core disease, nemaline rod myopathy, and centronuclear (myotubular) myopathy. Central core disease is a dominantly inherited genetic disease characterized by mild leg weakness appearing in infancy. This weakness does not progress with age, but leads to delay in walking. Nemaline rod myopathy is a dominantly or recessively inherited, genetic disease characterized by infantile muscle weakness and loss of muscle tone, accompanied by problems in suckling or feeding, delay in walking, and occasionally respiratory problems. Other characteristics surface with maturity, such as reduction of muscle bulk, weakness of the trunk and limbs, and development of a long and abnormally shaped face with a protruding jaw. Muscle weakness and wasting may progress slowly throughout life. Centronuclear (myotubular) myopathy is an inherited genetic disorder characterized by muscle weakness and loss of tone present at birth or by development of muscle weakness later in infancy. Weakness gets gradually worse and can become moderately severe. Infants may have ophthalmoplegia or paralysis of the eye muscles.

What is Myotonia Congenita?

Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction.  The condition is present since early childhood, but symptoms can be mild.  Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest.  The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement.  Muscle strength is increased.  There are two forms of the disorder:  Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form.  The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles.
 

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