What is Episodic Ataxia?

Episodic ataxia is an unusual genetic condition where a patient experiences periodic loss of coordination. Researchers working on this condition have identified two types in the general population, with an additional five types in specific families and communities. There is no cure for episodic ataxia, but treatment is available, depending on the type the patient has and the severity. This condition is dominant, meaning a person only needs to inherit one copy of the gene involved in order to develop it.

In people with this neurological disorder, there are errors with the encoding of certain proteins used to transmit cellular signals. This can result in over excitement of neurons and other problems, creating difficulties with balancing. A person with episodic ataxia often experiences uncoordinated movement in response to a triggering event, like fatigue, stress, or heavy physical activity. The patient may stagger or have a stomping gait, can have trouble controlling the hands for fine motor tasks, and may also lose control over the muscles.

Some patients with episodic ataxia experience myokymia, where the muscles ripple and twitch uncontrollably under the skin. This can be painful for the patient. Others can develop migraine headaches in association with their ataxic episodes. Cerebellar degeneration is also seen in some patients with episodic ataxia. In patients with this complication, the area of the brain responsible for controlling movement degrades over time, making the condition worse.

Usually, this condition onsets when the patient is very young. One treatment option is medication to try to control the episodes, especially if the patient also experiences seizures. Patients may also benefit from physical therapy, and sometimes tools like electrical stimulation of the nervous system are helpful. The rarity of episodic ataxia can make it challenging to treat, as many doctors have no direct experience with it. Patients may find it helpful to travel to a specialist to get a full workup and advice on treatment from someone with experience in this area.

Several medical schools have research facilities focusing on balance disorders like episodic ataxia and may be able to give patients better treatment than a conventional neurologist or doctor can offer. It is also possible to enter clinical trials for new treatment and management regimens. Patients in trials can access the latest treatments currently in development. Clinical trial participation requires meeting a very precise set of parameters. Patients with no other medical conditions are usually good candidates, as are people who live close to the location where the trial researchers work, as they can easily attend appointments.