Friedreich Ataxia

Friedreich Ataxia
It represents the most common form of genetically transmitted ataxia. Disease is a less well known. Spinal cord and peripheral nerves are the places most affected in this disease.

 
The disease particularly interested in children and adolescents. It is associated with a deficiency of frataxin, which is a protein that serves to balance iron in mitochondria.

 
Severity of disease depends on the concentration of the protein: if the protein is in low concentration, severity of disease is higher. It can occur in the context of a vitamin E deficiency genetic etiology. Women have a better prognosis than men.

 
In terms of pathologic atrophy are found in the cerebellum, and atrophy of brain circumvolutiunilor. Spinocerebeloase tracts, tracts corticospinale side and posterior columns are affected by multiple sclerosis and degeneration. The phenomenon of degeneration of nerve glosofaringian anymore and nuclei, the vagus nerve, hypoglossal nerve and deep cerebellar nuclei. The endorsement precentral Betz cell loss was reported. Demyelination of peripheral nerves suffer massive casualties. At the heart muscle hypertrophy is found miocitara fibrosis, focal vascular fibromuscular dysplasia with deposits of PAS positive material immediately below the vessel intima or media. It has been reported and focal degeneration of myelinated nerve fibers and ganglia degeneration nemielinizate the heart and nervous heart. Genetically speaking, Friedreich ataxia is caused by a defect on chromosome 9q13-q21, the defect causing a reduction of the concentration of frataxin. This is the classic form of the disease. Friedreich ataxia associated with vitamin E deficiency is also caused by a genetic defect that induces a deficient intake of vitamin E in tissues, depriving the central and peripheral nervous system. In this case, the defect is on chromosome 8q13. Form class can be associated with some cases as a deficiency of vitamin E.

 
Symptoms occurring before 25 years.
Clinically, this disorder begins with dysarthria, and then went to appear in the deficit gets worse over time, sometimes nystagmus and progressive scoliosis, foot and heart deformation. Lower limbs are more frequently affected than higher ones. These symptoms are mild at first, progresses over time and lead to patient disability.

 
Heart Touching occurs in most people affected by Friedreich ataxia. To meet cases with murmurs or cardiac conduction disturbance, cardiomegaly and concentric hypertrophy. One quarter of patients develop type 2 diabetes mellitus (insulin resistant). Musculoskeletal deformities and is frequently found carved foot, equinovarus foot and scoliosis.

 
The neurological examination is found nystagmus, eye movements are slow, speech is affected (dysarthria), limb movements are ataxia. Deep tendon reflexes are absent, muscle weakness in limbs distal portion, and vibratory proprioceptive sensitivity is diminished.

 
Unfortunately, the natural evolution of Friedreich ataxiei is for disability, patients arriving in wheelchairs and then die around the age of 35 years. There is still no specific treatment for Friedreich ataxia.

It is recommended to maintain continuous exercise, physical activity, which aimed at preserving overall health (physical therapy).

 
Treatment of heart problems and diabetes patient can maintain the quality of life for a long time. You can try a natural treatment that seems to improve symptoms: - Omega-3 dose is administered as 3-4 capsules per day for a month, then break that takes 10-14 days after administration - Wheat germ oil. 2-3 teaspoons per day is administered before the main meals. Therapeutic potential can be increased if this remedy is added grape seed oil, antioxidant and stimulant of oxygenation and neural trophicity. - The diet should include foods rich in carotenoids required - spinach, carrots, red peppers, apricots, peaches with high content of lycopene, cryptoxanthin and lutein, flavonoids - blueberries, broccoli, green tea, currant, orange, grapefruit, lemons, grapefruit, rich in anthocyanins, flavones, flavonone, ellagic acid and catechin. - Vitamin C in doses of 1000 mg / day to promote the absorption of flavonoids and antioxidant protection.