Congenital Myopathy
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What is Congenital Myopathy?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
Related NINDS Publications and Information
Additional resources from MEDLINEplus
What is Congenital Myopathy?
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.
Is there any treatment?
What is the prognosis?
What research is being done?
Select this link to view a list of studies currently seeking patients.
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
Muscular Dystrophy Association 3300 East Sunrise Drive Tucson, AZ 85718-3208 mda@mdausa.org http://www.mda.org Tel: 520-529-2000 800-344-4863 Fax: 520-529-5300 |
March of Dimes Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 askus@marchofdimes.com http://www.marchofdimes.com Tel: 914-428-7100 888-MODIMES (663-4637) Fax: 914-428-8203 |
Genetic Alliance 4301 Connecticut Avenue, N.W. Suite 404 Washington, DC 20008-2369 info@geneticalliance.org http://www.geneticalliance.org Tel: 202-966-5557 800 336-GENE (4363) Fax: 202-966-8553 |
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Last updated September 10, 2008