Neurology .- The ataxia is a neurological disorder that is characterized by a progressive disease that leads to imbalance in walking and in showing the difficulty in performing and fine rhythmic movements. Trouble walking, muscle atrophy, nystagmus … your symptoms are caused by neuronal apoptosis in the CNS where their causes may be due to a tumor, infection, trauma, be inherited or a deficiency of vitamin B12.
What is ataxia and what are its causes?
Ataxia is a hereditary disease, specifically a gene abnormality called FXN (frataxin) located on chromosome 9 that affects the central nervous system (CNS) causing problems with speech and muscle wasting in which a person should only take a gene defective from each parent to eventually develop the disease. But there are more causes responsible for the progress of the disease:
Deficiency of vitamin B12.
Among the neurological disorders, Friedreich’s ataxia is caused by degeneration of nerve tissue in the spinal cord and cerebellum (responsible for controlling voluntary movements ).
Ataxia Friedreich’s ataxia symptoms
This progressive neuronal apoptosis involves loss of movement coordination, ie, impaired motor coordination with a broad base of support “as drunk.” Symptoms of the disease usually manifests at an early age (from which one begins to walk) or develop very slowly, “incognito” hiding like normal cells and subsequently externalized:
Trouble walking. This is the first symptom to appear and as mentioned, being a progressive disorder, ataxia slowly gets worse and spreads to other parts of the body and the head, arms or trunk.
Muscular atrophy. As time goes on increasing muscle weakness and atrophy where it ends in deformity and muscle weakness are more noticeable in the feet and hands. The lack of coordination and various muscle problems leading to damage to the spine such as scoliosis.
Loss of reflexes in the tendons. This is exacerbated areflexia especially in knees, ankles and wrists together.
Gradual loss of the sense of touch. This is an injury that usually begins attacking the extremities (arms and legs) and slowly spread to other areas of the body.
Dysarthria ( language disorders ). One of the consequences of ataxia in speech problems where it becomes a dysarthric speech is, difficulty to properly move the muscles of the face and joints.
Heart disease. There are often palpitations, breathing difficulties and chest pains leading to cardiomyopathy, myocardial fibrosis or heart failure.
Nystagmus. Characterized by involuntary and uncontrolled movement of the eyes that can seriously affect vision.
The ataxia is easily fatigued and other common symptoms of the disease are vomiting, tinnitus and dizziness.
Treatment for ataxia
Today as in the case of many neurodegenerative diseases, there is no cure for this autosomal recessive disease, although there are treatments for many of its symptoms. Currently the treatment of ataxia include:
Wheelchairs and other orthopedic aids.
“This loss of coordination can be caused by several different medical and neurological conditions: for this reason it is important that a person with ataxia seek medical attention to determine the underlying cause of the symptoms and get appropriate treatment” (National Ataxia Foundation).