Myopathy - Congenital
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What is Congenital Myopathy?Is there any treatment?What is the prognosis?What research is being done?Organizations
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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?
Treatment involves supportive measures to help patients cope with the symptoms of congenital myopathies.
What is the prognosis?
Patients with central core disease generally have a normal life expectancy with non-progressive muscle weakness. Patients
with nemaline rod myopathy may have a normal life expectancy with progressive weakness, or may die early in infancy from respiratory
distress depending upon the severity of the disorder. Patients with centronuclear (myotubular) myopathy generally have a poor
prognosis and suffer an early death, usually in infancy.
What research is being done?
The NINDS is committed to research on the congenital myopathies. Research includes studies on the molecular basis of muscular
activity and genetic studies. The goals of these studies are to increase understanding of these disorders and to find ways
to treat, prevent, and ultimately cure them.
Select this link
to view a list of studies currently seeking patients.
Organizations
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Last updated July 19, 2007
