CONGENITAL MYOTONIC DYSTROPHY Meaning and
Definition
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Congenital myotonic dystrophy is a rare genetic disorder characterized by muscular weakness and myotonia, which is the delayed relaxation of muscles after contraction. It is a type of myotonic dystrophy that is present from birth and persists throughout a person's life.
The condition is caused by a mutation in the DMPK gene, which is responsible for producing a protein called dystrophia myotonica protein kinase. This mutation leads to the abnormal expansion of a repeated sequence of DNA in the gene, resulting in the formation of a faulty protein. The accumulation of this faulty protein in muscle cells impairs their function and leads to the symptoms associated with congenital myotonic dystrophy.
Infants affected by this condition often exhibit signs such as weak muscle tone, muscle weakness, and difficulty feeding and swallowing. They may also experience respiratory problems, developmental delays, and intellectual disabilities. Additionally, congenital myotonic dystrophy can affect other systems of the body, leading to cardiac and gastrointestinal issues, as well as abnormalities in the eyes and endocrine system.
Due to its congenital nature, the symptoms of the condition are typically present at birth or become apparent shortly after. The severity and progression of symptoms can vary widely, even among affected family members. While there is currently no cure for congenital myotonic dystrophy, various treatments and therapies are available to manage the symptoms and improve the quality of life for individuals with the condition.
Common Misspellings for CONGENITAL MYOTONIC DYSTROPHY
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