What is Friedreich's Ataxia ?

The word Friedreich is the name of the doctor who identified this disorder for the first time in 1863. Ataxia signifies a loss of the ability to execute coordinated voluntary movements.

Friedreich's Ataxia is a neurological, genetic and degenerative disease of the central nervous system. It is a slowly progressive neuromuscular disorder caused by the premature death of nerve cells which are responsible for the control of balance and coordination. It results in an inability to coordinate voluntary muscle movements.

The cerebellum is responsible for the control of balance and coordination but it does not play its role to maintain a precise coordination of the muscles in a harmonious voluntary motor activity (for example : walking, writing, speaking, breathing… )

What causes Friedreich's ataxia ?

Friedreich's ataxia is caused by a single gene defect that results in limited but inadequate production of the protein frataxin.

At what age do the first symptoms appear ?

Friedreich's ataxia symptoms may first appear any time between the ages of five and fifteen. There are people who are first affected by FA as adults.

What are the primary symptoms ?

Initial symptoms may include unsteady posture, frequent falling, and progressive difficulties walking due to an impaired ability to coordinate voluntary movements (ataxia). His walk reminds one of that of a person in a state of intoxication.

What are the other symptoms appearing in the course of the evolution of Friedreich's ataxia ?

The cerebellum is responsible as the "centre of coordination". The lack of coordination which results from it affects the lower and the upper limbs, the trunk, the neck and it has repercussions on the level of walking, standing, on all fours, kneeling, crouching, sitting, control of gestures, control of speech. It also affects the fingers, the hands, and difficulty in writing, difficulty of speech and a decrease in vision and hearing, scoliosis.

Friedreich's ataxia usually leads to full-time wheelchair use by about the age of twenty and death. A disease of the cardiac muscle which may be characterized by shortness of breath upon exertion (dyspnoea), chest pain, and irregularities in heart rhythm (cardiac arrhythmia) can be fatal. Some affected individuals may also develop diabetes but it does not result from the degeneration of nerves.

How is Friedreich's ataxia transmitted ?

As with all inherited diseases, Friedreich's Ataxia is caused by a genetic defect. It affects male and female children alike and is passed down as a recessive trait. This means that the disease will develop in offspring only when both mother and father transmit the recessive Friedreich's Ataxia gene. A child who receives the defective gene from one parent and a normal gene from the other becomes a "carrier" and never develops the disease. When both parents are carriers, the chance of a child inheriting Friedreich's Ataxia is one in four.

Is there any cure or treatment ?

Presently, there is no cure for Friedreich's Ataxia but it is possible to treat some symptoms by physiotherapy treatments and occupational therapy. Orthopaedic intervention can alleviate scoliosis. Medication is also used for cardiac problems and the control of spasms and of diabete.

Medical research

Scientists are conducting research into the biochemistry, neurobiology and biophysics of central and peripheral nerves, heart and skeletal muscle, and the interaction between muscle and nerve to uncover the pathological process in Friedreich's. In addition, in-depth studies of diabetes and hearth disease are being conducted to determine their relationship to FA.

Many investigators have been focusing their efforts on the possibility that an abnormal enzyme initiates the disease process. One scientist has identified a deficiency of enzyme in Friedreich's ataxia.

The hope of the persons afflicted with Friedreich's ataxia

The afflicted persons hope for a stop to the disease or at least a slowing down of the evolution of the disease.

GIVE US HOPE !