What is Friedreich’s Ataxia?
Friedreich’s ataxia, also known as FA, is a rare genetic disorder that causes difficulty walking, a loss of sensation in the arms and legs, and impaired speech. FA is a debilitating, life-shortening, degenerative neuro-muscular disorder.
It’s also known as spinocerebellar degeneration. The disease causes damage to parts of your brain and spinal cord and can also affect your heart.
“Ataxia” means lack of order. There are a number of types of ataxia with a number of causes. Friedreich’s ataxia is one type of this condition.
Friedreich’s ataxia affects approximately 1 in every 50,000 people in the United States.
Although there’s no cure for Friedreich’s ataxia, there are several treatments available to help you cope with the symptoms. Such as clinical trials, certain vitamins, and lots of exercise.
The Signs & Symptoms of Friedreich’s Ataxia are:
- poor/lack/loss of coordination (ataxia) in the arms and legs
- the ataxic gait (the way you walk)
- severe balance issues
- fatigue – energy deprivation
- muscle loss/weak muscles
- vision impairment
- hearing loss
- slurred speech/speech problems
- aggressive scoliosis (curvature of the spine)
- diabetes mellitus (insulin – dependent, in most cases)
- serious heart conditions, including hypertrophic cardiomyopathy and arrthymias
- difficulty sensing vibrations in your legs, arms, feet, and hands.
- foot deformities, like clubfoot
These symptoms are not present in all individuals with FA. The mental capabilities of people with Friedreich’s ataxia remain completely intact. The progressive loss of coordination and muscle strength leads to motor incapacitation and the full-time use of a wheelchair. Most young people diagnosed with FA require mobility aids such as a cane, walker, or wheelchair by their teens or early 20s.
The Ataxic Gait:
Most commonly seen in cerebellar disease, this gait is described as clumsy, staggering movements with a wide-based gait. While standing still, the patient’s body may swagger back and forth and from side to side, known as titubation. Patients will not be able to walk from heel to toe or in a straight line. The gait of acute alcohol intoxication will resemble the gait of cerebellar disease. Patients with more truncal instability are more likely to have midline cerebellar disease at the vermis.