No cure for fatal neurological disease

Friedreich’s ataxia affects three out of 100,000 people.

ABU DHABI // There is no cure for Friedreich’s ataxia, and patients should not fall for false promises, a doctor says.

Dr Numan Amir, a senior consultant neurologist at Sheikh Khalifa Medical City, says that while this is a “pessimistic view of the prognosis”, it is the reality.

While medications can be used to treat some of the disease’s symptoms, nothing has been conclusively helpful for the underlying problem.

“You can try medication for coordination, for example, but it [loss] is caused because there are cells in the nucleus of the brain that die and there are cells in the spine that have died as well. You cannot bring that back to life. You also have cells in the heart that die,” he notes.

“You can’t stop them from dying. Will there be a cure? We hope so, yes.”

But he cautioned that “you cannot put a timeframe to it”.

Friedreich’s ataxia is caused by an abnormality in a gene that is thought to control the iron level in the cells. It causes progressive damage to the nervous system that cannot be repaired.

One out of every 50 to 100 people in the Middle East carries the gene.

“The disease prevalence is unknown because there is no data,” says Dr Amir. “But it’s estimated that three people per 100,000 have the disease.”

The disease is also recessive, so it is only passed on when both parents are carriers. The average age of onset is between 10 and 13 years old.

“There is plus and minus with it, so it can start at age three,” Dr Amir says. “Usually it begins with gait abnormalities.”

The average life span of a patient with the disease is about 35 to 40. “But again, it is a range. On the one end, death can happen at age 23.”

The cause of death almost always is cardiac arrest.

The severity of the disease is determined by how damaged the affected gene is.

“There are patients who are affected more, develop the symptoms earlier and die earlier,” Dr Amir says. “There are also others who live longer and develop fewer symptoms but what is concrete is that you will not have a normal life span.”