MYOTONIC DYSTROPHY Meaning and
Definition
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Myotonic dystrophy is a genetic disorder characterized by progressive muscle weakness and stiffness, as well as other systemic manifestations. It is caused by an expansion of repetitive DNA sequences in certain genes, particularly the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19 or the zinc finger protein 9 (ZNF9) gene on chromosome 3.
The primary symptom of myotonic dystrophy is myotonia, which refers to the prolonged contraction and delayed relaxation of muscles after voluntary effort or stimulation. This leads to difficulty in releasing grip, stiffness, and muscle wasting over time. Additionally, affected individuals may also experience muscle weakness, particularly in the face, neck, hands, and feet, resulting in slurred speech, difficulty in swallowing, and a characteristic facial appearance. Other associated features may include cardiac abnormalities, cataracts, insulin resistance, intellectual impairment, and hormonal imbalances.
The severity and age of onset can vary widely between affected individuals, ranging from mild symptoms appearing in adulthood to more significant symptoms manifesting in childhood. Myotonic dystrophy is inherited in an autosomal dominant manner, which means that a single copy of the altered gene from an affected parent is sufficient to cause the condition.
While there is no cure for myotonic dystrophy, treatment focuses on managing the symptoms and improving quality of life. This may involve physical therapy, medication to alleviate myotonia and reduce muscle weakness, speech and occupational therapy, and regular monitoring and management of associated complications. Genetic counseling is crucial for affected individuals and their families to understand the risks of inheritance and make informed decisions.
Common Misspellings for MYOTONIC DYSTROPHY
- nyotonic dystrophy
- kyotonic dystrophy
- jyotonic dystrophy
- mtotonic dystrophy
- mgotonic dystrophy
- mhotonic dystrophy
- muotonic dystrophy
- m7otonic dystrophy
- m6otonic dystrophy
- myitonic dystrophy
- myktonic dystrophy
- myltonic dystrophy
- myptonic dystrophy
- my0tonic dystrophy
- my9tonic dystrophy
- myoronic dystrophy
- myofonic dystrophy
- myogonic dystrophy
- myoyonic dystrophy
- myo6onic dystrophy
Etymology of MYOTONIC DYSTROPHY
The term "myotonic dystrophy" has its roots in both Greek and Latin:
1. "Myotonic" is derived from the Greek words "myo-" meaning "muscle" and "tonos" meaning "tension". In medical terminology, "myo-" is often used to refer to muscles.
2. "Dystrophy" comes from the Greek word "dystrophia", which combines the elements "dys-" meaning "abnormal" or "bad" and "trophe" meaning "nourishment" or "growth". In medical context, "dystrophy" refers to a disorder that affects the normal development or function of tissues or organs.
Combining these roots, "myotonic dystrophy" describes a condition characterized by abnormal muscle tension, weakness, and degeneration.
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