The epilepsy of EAST syndrome is usually easily completely controlled by standard antiepileptic medications.

The ataxia that patients with EAST syndrome get is severe, progressive and disabling.

The sensory deafness of EAST syndrome is incomplete and stable.

The tubulopathy of EAST syndrome causes an excessive loss of salt (sodium chloride) in the urine, patients often have an appropriate and strong appetite for salt. Salt reabsorption is really important to maintain a normal blood pressure, so symptoms of a low blood pressure are common, these can include fatigue, dizziness (especially on standing up), weakness, difficulty in concentrating, depression, thirst and feeling cold. This salt loss may also lead to susceptibility to some infections.

To compensate for the low blood pressure, the body produces more hormones to increase salt absorption and blood pressure. This also causes the **blood potassium levels to drop** and for the blood alkali level to rise. Very low blood potassium levels (usually when there is another problem, like diarrhoea) can cause heart rhythm problems, which can be dangerous.

And for reasons which aren’t entirely clear some patients also have low blood levels of magnesium. If this gets low it can cause tingling (usually in the hands, feet and around the mouth) as well as muscle cramps. This may also cause calcium to be deposited in abnormal places like joints and behind the eyes.

These features are really quite variable from patient to patient, some have almost no symptoms, others have quite disabling symptoms.

EAST syndrome is a Recessive Genetic disease. This means that (generally) both parents must carry the gene to have an affected child. Given the rarity of these mutations requiring two occurrences, the likelihood of children inheriting EAST syndrome from an affected parent is low.

We routinely use genetic testing to confirm the diagnosis. Sometimes we also use a special test called a thiazide test to look at kidney function at the London Tubular Centre.

There is currently no curative treatment for EAST syndrome.

Epilepsy usually requires antiepileptic medication, which normally completely controls the seizures.

The severe progressive ataxia is by far the most serious manifestation of EAST syndrome. Specialist neurological and neurophysiotherapy input. We generally refer patients to Prof Paola Giunti at the National Neurological Hospital in London, who has a special interest in hereditary ataxias.

As the kidney problem is salt loss by the kidneys and our philosophy at the LTC is to replace this salt loss by salt replacement in the diet as much as possible. We also use the best oral potassium (Slow-K) and magnesium (MagTab S/R) supplements that are preferred by most patients. We generally avoid potassium sparing diuretics, which make blood tests better, but which tend to make symptoms worse. We prefer to treat patients symptoms rather than blood tests.

EAST syndrome is a genetic and therefore lifelong condition. The Gitelman-like kidney part of the syndrome is mild and overall kidney function is rarely affected.