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What is congenital myopathy? Congenital myopathy is a rare genetic condition that causes muscle weakness. Congenital means “present at birth” and myopathy means “disease of muscle.” Babies with congenital myopathies lack muscle tone at birth.
What is congenital myopathy? Congenital myopathy is a term for any genetic muscle disorder that is typically noticed at birth and includes weakness and lack of muscle tone. Some congenital myopathies may not show symptoms until infancy or childhood.
Congenital myopathies are a heterogenous group of hereditary primary muscle disorders that are present from birth, although their onset may be delayed until later in infancy or early childhood.
Learn about Congenital Myopathy, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find resources
Some of the congenital inheritable myopathies cause severe, general muscle weakness that creates problems with basic activities like swallowing and breathing. Other inheritable myopathies cause episodes of muscle weakness or stiffness that are milder and more localized, and temporary in nature.
Congenital myopathy is a term for any genetic muscle disorder that is typically noticed at birth and includes weakness and lack of muscle tone. Some congenital myopathies may not show symptoms until infancy or childhood.
What is congenital myopathy? A child with congenital myopathy typically has low muscle tone and reduced strength because their muscles do not work normally. The symptoms are often noticeable when a baby is born. Physical (gross motor) skills – like rolling over – usually develop late.
Congenital myopathies are rare and tend to be less severe than congenital muscular dystrophies. Each type of congenital myopathy is distinguished by an underlying genetic mutation with these disorders have been shown to be inherited in x-linked, autosomal recessive and autosomal dominant forms.
Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy.
The term “congenital myopathy” was originally used to describe a group of myopathic disorders presenting preferentially, but not exclusively, at birth and being morphologically distinct from congenital muscular dystrophies (). 1–4 However, disorders that were once considered forms of muscular dystrophy are now known to be allelic to some types of congenital myopathy.