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Everything about Episodic Ataxia. What it is and how to cure?
Posted on: 27/Jun/2019 11:09:28 AM
Episodic ataxia is a condition where the neurological system of the body is affected and causes impaired movements. This is a rare condition where the victims experience bad body balancing and coordination issues called ataxia. Such imbalanced conditions may last for a few to several seconds or even couple of hours.
This condition of Episodic ataxia or EA is hereditarily caused in most cases. In addition, there may also be genetic reasons for the condition which comes with varied symptoms.
EA is classified into two types - the type 1 and type 2.
What is basically Episodic Ataxia or EA?
It is a type of autosomal dominant disorder that is observed with sporadic bouts of ataxia. There may or may not be continuous movement of muscles which is termed as myokymia. With stress or excessive exertion of pressure like exercise activities, the effect of EA may be increased. Generally the basic levels of this illness is observed during infancy.
Type 1 EA
Generally EA type 1 symptoms are observed during early stages of childhood. The child may experience bouts of ataxia. This experience may last for about half an hour in a day. A few factors that may trigger EA are caffeine, fatigue, emotional stress or physical stress.
Furthermore, in case of Type 1 EA, the individual may also have hindered speech with tremors or weakness of muscles when they experience episodes of attack. The main cause of this type of EA is mutation of KCNA1 gene. As genetic mutation occurs, signals are interrupted causing ataxia. This mutation gets passed on hereditarily from parents to children.
Type 2 EA
Generally type 2 EA is observed during early stages of childhood or adulthood. The attack thus caused in this type of EA will last for a few hours to many hours. Such occurrence is however lesser in frequency as compared to type 1 EA. Some of the factors that may trigger the condition are fever, consumption of alcohol, excessive mental or physical stress, caffeine, medications, or physical exertion of body.
Doubled vision
Ringing heard in ears
Improper or difficult speech, etc. are some of the common conditions that raise in this condition. Furthermore, during episodes of attack, there may be rapid or repeated eye movements. In such conditions, the gene affected could be CACNA1A.
There are a few other types of EA as well, but they are quite rare.
Let’s look into the symptoms of Episodic Ataxia below
Generally the symptoms occur in episodes and not at a stretch. These symptoms of EA occur for a few seconds to minutes to hours. Generally, in EA condition, the most common symptom is impaired balance and improper coordination of body. Further, the other kinds of symptoms include dizziness. And the vision goes blurred. The body may be subjected to involuntary actions and the person may also experience muscle crams or twitching. Muscle spasms are common too. In a few cases, migraine headaches are observed. Muscle weakness and repeated movement of eyes called nystagmus is also observed. Tinnitus which is ringing of sound inside ears is also observed commonly. There may also be temporary paralysis attack in one side of the body.
How to diagnose EA?
There are a few testing methods followed to diagnose EA. The first is neurological examination where the individual is subjected to tests in order to examine the muscle strength and coordination powers and memory powers. This may also involve eye tests.
The next is electromyography. Here, the diagnosis involves deeply inspecting the muscle health. The nerve cells are checked and controlled too. There is genetic testing done too. This involves checking blood samples and that of hair and skin and tissues.
In order to diagnose the condition of EA, the ubiquitous causes are first of all inspected. In case the affected person has family history of the condition (ataxia), then the doctor may perform genetic testing as the first and foremost diagnostic method. During genetic testing method, the patient will have to meet a genetic counsellor.
How to treat Episodic Ataxia?
As a person gets diagnosed with Episodic Ataxia or EA, the treatment can be done using anticonvulsant or antiseizure medicines. The common drug used for the treatment is EA Type 1 is acetazolamide. The other medicines are Valproic acid, Dalfampridine, Carbamazepine, etc.
In case of other symptoms, the practitioner may prescribe other additional drugs. A few doctors also suggest physical therapy in addition to medications so that the mobility is improved. Further, there should also be diet changes and lifestyle changes so that the triggers can be avoided in EA.
For the affected individuals, strict and prompt trials are imperative.
It is to be understood that there is no permanent cure for EA. Though being very chronic health condition, according to researches, it will not affect the expectancy of one’s life. in a few cases, the symptoms are likely to fade away with time, and t this happens on its own. With persistent symptoms, the treatment may largely help.
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