Symptoms Of Friedreich's Ataxia

Friedreich's ataxia is a disease characterized by control loss of the movements of the body. It results in the progressive degeneration of the nerves and muscles. It is an inherited disease derived from a mutation or defect in the FXN gene, and one copy of it has to come from both parents for an individual to develop the disease. Friedreich's ataxia is known to start in the lower regions of the body and works its way up to the arms and hands, then to the main torso of the body. The thinning and damage done to the nerves often results in a severe loss of coordination as the disease progresses to different regions throughout the body. Usually, an individual who has Friedreich's ataxia will begin to see symptoms manifest between five and fifteen years old, but some cases have started later. Get to know the symptoms of Friedreich's ataxia now.

Poor Coordination

Poor coordination is usually the first sign to appear in individuals with Friedreich's ataxia. The action of walking will become difficult due to inadequate balance. It often appears the individual is walking like they are very dizzy or intoxicated. Sensation loss also begins to develop in the lower region of the body including the legs, which contributes to the poor balance and trouble with walking properly. In addition, poor coordination is further contributed to by a decreased functionality of reflexes in the legs and feet. The degeneration and thinning of the nerve fibers that lead to the spinal cord cause the nerve messages to be disrupted to the part of the brain responsible for voluntary movement coordination of the limbs. Additionally, the severe fatigue of the areas in which the nerves are disintegrating provides another element that makes it difficult to maintain proper balance and coordination of those regions. Poor coordination is often accompanied by scoliosis, or abnormal curving of the spine, which exacerbates the issues with voluntary movements.

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Hearing Loss

Friedreich's ataxia patients will begin to have trouble understanding others when communicating verbally and they will also have delayed reactions to sounds that change rapidly. Selective nerve degeneration occurs in the temporal lobe of the brain where signals are exchanged between the brain and the auditory components. This causes inevitable interruption of nerve synchronization that results in the deterioration of normal temporal resolution or the capability to discern quick changes of auditory signals over time. In other words, the hearing loss caused by Friedreich's ataxia is not due to the inability to physically hear sounds, but instead lies in the functionality of the nerve communication responsible for how the brain perceives and interprets such auditory sounds. An individual with Friedreich's ataxia will not be able to interpret the rapidly changing speech phonemes present in running speech fast enough for their temporal lobe to correctly interpret what that speech is. Because the loss of hearing caused by Friedreich's ataxia cannot be remedied with a hearing aid, often there are negative impacts on socialization, education, and general communication with others.

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Changes In Vision

Friedreich's ataxia will also manifest in the visual pathways causing some changes in vision, including vision loss as well as abnormal and excessive eye movements. While these visually related symptoms will not be seen until later stages of the disease, they are important when making choices regarding treatment for Friedreich's ataxia. Usually, both the posterior and anterior neural visual pathways will slowly and progressively deteriorate as the Friedreich's ataxia worsens. The disease causes the already delicate optic nerve fibers and the optic nerve divergences to decay. However, significant vision loss does not occur until there has been significant thinning of these nerve fibers. The vision issues that occur in Friedreich's ataxia patients will begin from their peripheral vision and then steadily become more intense toward the central vision of the patient's eyes. Typically the vision loss associated with Friedreich's ataxia is characterized by a marked decrease in the individual's visual depth.

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Clubfoot And Similar Deformities

Many neuromuscular diseases and disorders tend to cause clubfoot and similar deformities, and Friedreich's ataxia is no exception to this. Individuals who have Friedreich's ataxia often experience some skeletal deformities that usually involve the feet, legs, ankles, and toes. Most commonly, these individuals will see very high arched feet or pes cavus, feet turning inward or foot inversions, toe deformities, involuntary toe bending, hammertoe, and clubfoot. Clubfoot is a combination of plantar flexion, exaggerated arch, and inversion that causes the feet to resemble a golf club. This inward turning of the feet happens when the leg muscle and the foot bone connection tendons are very tight and have a lot of tension in addition to being abnormally short. Because these neuromuscular related disorders such as Friedreich's ataxia are characterized by degeneration of nerves and muscles, the resulting skeletal deformities often cannot be fully corrected.

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Muscle Weakness

Friedreich's ataxia attacks the neurons responsible for the actual voluntary movement of the muscles, and naturally, muscle weakness will occur as a result of the decreased mobility and decreased communication between the nerves in the limbs and the brain. The reduction in muscle strength will be symmetrical and progressive as the disease advances. Most often, the most severe weakening of the muscular system occurs in the muscles of the pelvic girdle region and then radiates down to the lower extremities. It is the combination of the weakening of the muscles and the progressive coordination loss that compels and causes most Friedreich's ataxia patients into using a wheelchair for mobility. Once an individual begins using a wheelchair because of the complications resulting from the disease, their muscle strength above the pelvis will usually stay unimpaired until the disease reaches more advanced stages. While the upper muscle strength is not a good indicator of how advanced the disease is, the strength and capabilities of the pelvic and leg muscles can help form a good idea of how far along Friedreich's ataxia has progressed.