ATAXIC PARAMYOTONIA Meaning and
Definition
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Ataxic paramyotonia is a rare genetic disorder characterized by a combination of muscle stiffness and impaired coordination. It falls under the broader category of channelopathies, which are conditions related to dysfunction in ion channels responsible for the proper functioning of muscles and nerves.
Individuals with ataxic paramyotonia experience episodes of muscle stiffness, also known as myotonia, which can vary in severity and can be induced or worsened by activities requiring repetitive muscle contractions. These episodes typically affect the muscles of the arms and hands, causing difficulties with movements such as gripping or releasing objects. Additionally, affected individuals may experience coordination problems, such as unsteadiness and a lack of balance, referred to as ataxia.
The underlying cause of ataxic paramyotonia is a mutation in the SCN4A gene, which provides instructions for producing a protein known as the sodium channel Nav1.4. This sodium channel plays a critical role in allowing the passage of sodium ions into muscle cells, which is essential for normal muscle function. The mutation disrupts the normal functioning of Nav1.4, leading to abnormal muscle excitability and a subsequent impairment in muscle coordination.
There is currently no cure for ataxic paramyotonia, and treatment options focus on managing the symptoms. This may include physical therapy to improve coordination and muscle strength, lifestyle modifications to avoid trigger activities and medications to alleviate myotonia and improve muscle function. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and associated risks.
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A disorder characterized by a tonic muscular spasm on attempted movement, associated with slight paresis and ataxia.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
Common Misspellings for ATAXIC PARAMYOTONIA
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Etymology of ATAXIC PARAMYOTONIA
The term "ataxic paramyotonia" is a combination of three separate medical terms: "ataxia", "paramyotonia", and "ataxic paramyotonia" itself.
1. "Ataxia" originates from the Greek word "ataxia", meaning "lack of order" or "disorder". It is a medical term used to describe the lack of coordination or control of voluntary movements. The term "ataxia" was first used in the mid-17th century.
2. "Paramyotonia" is a compound word consisting of "para-" and "myotonia". "Para-" is derived from the Greek word "pará", meaning "beside" or "abnormal". "Myotonia" originates from the Greek word "myo-" meaning "muscle" and "-tonia" meaning "tension" or "tone".
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