Friedreich Ataxia

Friedreich’s Ataxia is one of the rarest hereditary neurological disorders, the first signs of which begin between the ages of 5 and 15 years. Ataxia debuts with the awkwardness of movement, then unsteadiness and uncertainty while walking, and by adolescence or early twenties, patients need wheelchairs. Speech usually becomes slurred. For the disease to manifest in a child, a specific defective gene must be inherited from both parents (autosomal recessive inheritance). Other symptoms that may also present include curvature of the spine (scoliosis), deformity of the foot (high concave arch), and heart disease, which is the immediate cause of death in 60% of patients. There is no effective cure for Friedreich Ataxia. Clinical and laboratory studies are not very indicative of the progression of the disease, and this, in turn, makes it difficult to interpret the results of clinical trials.

Antioxidants are thought to reduce cell damage by “free radicals”. Antioxidants are found in small amounts in foods. Recent studies have shown conflicting results on the effects on the heart of idebenone, coenzyme Q10, and vitamin E in Friedreich’s Ataxia, measured as a decrease in the thickness of the interventricular septum (the common wall for the left and right ventricles) and left ventricular mass (the left ventricle is the main chamber of the heart that responds for blood circulation throughout the body).

Ataxia Symptoms and Prognosis

Symptoms

Symptoms usually appear in the first and second decades of life, rarely in the third and fourth decades.

• Uncertainty
• Staggering
• Stumbling when walking
• Frequent falls
• Violation of handwriting due to tremor
• Dysarthria
• Weakness in the legs
• Hearing impairment
• Tendon and periosteal reflexes (primarily Achilles and knee reflexes) disappear
• Rheumatic heart disease can sometimes be an early symptom
• Patients do not perform the calcaneal knee test, swaying appears in the Romberg position, which increases when the eyes are closed
• Deep sensitivity is disturbed
• Muscle atrophy increases. At the initial stages, it is more pronounced on the lower extremities; with the course of the disease, it also captures the upper ones
• Total areflexia is formed
• The optic nerve atrophies
• A cataract develops, leading to blindness
• The function of the pelvic organs is impaired
• Dementia develops (neurological disorders)
• Endocrine disorders: diabetes mellitus, hypogonadism, infantilism, ovarian dysfunction. Cardiomyopathy;
• Skeletal deformities: the curvature of the spine, kyphoscoliosis, “Friedreich’s foot” (high concave arch of the foot with overextension of the fingers in the main phalanges and flexion in the distal ones), deformity of the fingers and toes, clubfoot.

Prognosis

The prognosis of Friedreich Ataxia is more favorable in women: 100% of women and only 63% of men live more than 20 years from the onset of the disease; 50% of patients do not live up to 35 years. The disease is steadily progressing and leads to profound disability, but the rates of progression are different:

• sometimes patients stop walking for several years; 
• in other cases, they retain the ability to move and self-care for a long time;
• dysfunction of the pelvic organs sometimes appears in patients with a long-term current disease. In most cases, the intelligence of patients with this disease is not affected;
• the cause of death is often progressive cardiomyopathy.

Diagnostics of Friedreich Ataxia 

Computed tomography of the brain, which remains the primary diagnosis of Friedreich Ataxia in this disease, is ineffective because it detects changes only in the later stages. It is possible to detect only a weak degree of cerebellar atrophy at an early stage and atrophy of the hemispheres, expansion of the stem cisterns, lateral ventricles, and subarachnoid space of both hemispheres at later stages. 

1. Early diagnosis of Friedreich’s ataxia is made using MRI, which makes it possible to detect spinal cord atrophy and a decrease in the transverse size of the spinal cord, especially increasing caudally at the expanded stage, and moderate atrophy of the pons, cerebellum, and medulla oblongata. 
2. At the initial stage, an electrophysiological study is necessarily carried out; with such studies, the severity of damage to the sensitivity of the nerves of the limbs is established. The electroneuromyographic pattern characteristic of this disease is the absence or significant decrease in the amplitude of the action potentials of the sensory nerves of the extremities, with a relatively small decrease in the speed of impulse conduction along the motor nerves. 
3. For a complete diagnosis, load tests of glucose tolerance are performed (to exclude diabetes mellitus), an X-ray examination of the spine. 
4. On the ECG, rhythm disturbance, inversion of the tooth, changes in conduction, with echocardiography, conduction disturbances, up to complete blockade, and hypertrophy of the interventricular septum are especially often noted. 

In some cases, the clinical and electrocardiographic symptoms of heart disease sometimes precede the appearance of neurological disorders by several years. Patients are observed for a long time by a cardiologist or a local therapist, most often with a diagnosis of rheumatic heart disease. To assess mitochondrial disorders using the cytochemical method, it seems most appropriate to determine the activity of lymphocyte dehydrogenase enzymes.

Treatment and prevention of Friedreich Ataxia

Friedreich Ataxia treatment does not lead to complete recovery, but timely prevention makes it possible to avoid many symptoms and complications developing. 

1. To slow the progression of the disease, mitochondrial drugs, antioxidants, and other drugs are prescribed that reduce the accumulation of iron in the mitochondria. The general principle of treatment with these drugs is the combined prescription of drugs that synergistically affect different levels of energy metabolism. 
2. It is recommended to simultaneously prescribe at least three drugs from the first three groups (drugs that increase the activity of the respiratory chain of mitochondria, cofactors of enzyme reactions of energy metabolism, antioxidants). 
3. Prescribed antioxidants such as vitamins A and E, as well as a synthetic substitute for coenzyme Q 10 – idebenone, which inhibits the neurodegenerative process and the development of hypertrophic cardiomyopathy. 
4. Usually, drugs are prescribed that improve myocardial metabolism: riboxin, cocarboxylase, preductal, etc. 5-hydroxy profan is also prescribed, which gives good results but requires further research. Generally, treatment is symptomatic, aimed at symptoms such as diabetes mellitus and diseases of the cardiovascular system. 
5. General strengthening treatment (vitamins) and drugs affecting tissue metabolism are carried out, the treatment of which should be periodically repeated. 
6. Surgical correction of the feet and the introduction of botulinum toxin into the spastic muscles are also performed. Physiotherapy and physiotherapy exercises are procedures without which Friedreich Ataxia treatment is most often ineffective. Constant exercises make it possible to keep the body in good shape and eliminate painful sensations. Children with FA can stay active for as long as possible with physical therapy and corrective exercise programs that should focus on training muscle balance and strength. With this exercise program, cardiomyopathy does not develop. 
7. Patients feel better when limiting carbohydrates in food to 10g / kg since their high consumption is a kind of “provocation” that enhances the defect in energy metabolism. Patients need social adaptation, as many have to live in a state of complete helplessness. Loss of vision, the ability to move independently, and impaired coordination create neurological disorders that must be eliminated with the help of specialists.

Hopefully, all this information was useful for you. Take care of yourself.

FAQ

• What kind of disease can be a cerebellar attack?

Friedreich Ataxia is a disease with impaired coordination of movements, which makes it difficult to smoothly and accurately perform them, is caused by pathological processes that lead to damage to the cerebellum (cerebellar ataxia) or afferent pathways that conduct deep sensitivity at the level of peripheral nerves or the posterior columns of the spinal cord.

• What is cerebellar failure?

Movement coordination disorder (MCD) is a disorder of the processes of coordination of muscle activity when performing motor tasks. One of the forms of NCD is ataxia. The condition is observed with damage to the cerebellum, frontal lobes, pathways of proprioceptive (deep) sensitivity.

• How to identify Friedreich Ataxia?

A patient with ataxia syndrome cannot walk fully, falls to the side, staggers falls sideways, or backward. Also, the disease is characterized by wide movements: large steps, a wide range of arms when walking.

• Can alcohol cause Friedreich Ataxia?

Yes, scientists have found out how alcohol and tobacco affect the cerebellum – the brain region responsible for the coordination of movements, balance, and muscle tone. According to a study published in the journal Alcoholism: Clinical and Experimental Research, alcohol dependence causes a decrease in the volume of the cerebellum.