What we Know about the Disease

Friedreich’s Ataxia is a rare, hereditary, monogenic, neurodegenerative disease. This disease is caused by a transmutation of both DNA copies of the FXN gene, which can be found in the 9q13 chromosome and encodes a protein that consists of 210 amino acids, known as frataxin. In a large majority of cases, these transmutations are consisted of important GAA trinucleotides’ extensions in both of the DNA double helixes, corresponding to the first introns of the frataxin gene and lead to inhibition of normal frataxin production.

Friedreich’s Ataxia is a neurodegenerative disease, which means that it causes the progressive collapse of the nervous system. It is characterized by progressive ataxia i.e. inability to coordinate movements, dysarthria – speech disorder-, muscle weakness and atrophy, mainly of the lower extremities. Hypertrophic cardiomyopathy and diabetes mellitus are also common.

Signs and symptoms of the disease typically start showing between the ages of 5 and 15. The disease affects about one in 50,000 people. Right now in Greece, it is estimated that there are 100 patients.

LIVING WITH FRIEDREICH’S ATAXIA

Complications of Friedreich’s Ataxia

According to the international bibliography⁴, the natural history of the disease leads to:

Difficulty in staying balanced while walking or standing up.
Progressive paralysis, especially of the legs. In the first decade of its appearance, the patient loses the ability to walk unaided and becomes wheelchair bound.
Irregular patterns of speech or utterance (dysarthria). Eventually the patient completely loses the ability to speak.
Shaking of the hands or the whole arms.
Distortion of the spine or of the lower extremities. Bone deformities (kyphoscoliosis, plantar fasciitis and light ankylosis) and scoliosis needing surgery.
Auditory, visual and urinary disorders. The patient often starts progressively losing their vision and hearing during the last stages of the disease.
40% of patients develop cardiomyopathy.
67% of patients develop diabetes mellitus.
Serious effects on the mental health of patient and their families.

Sources:

Facts about Friedreich Ataxia, MDA Australia, available at www.mdaustralia.org.au

Regner SR, Wilcox NS, et all, J Child Neurol. 2012 Sep;27(9):1152-8, Friedreich ataxia clinical outcome measures: natural history evaluation.