by Kimberly Allen, RN
Although Friedreich’s ataxia is considered relatively rare it is the most commonly diagnosed form of inherited ataxia. It affects approximately 1 out of every 50,000 Americans. Both males and females are equally affected.
Friedreich’s ataxia is a neuro-muscular disorder that is caused by a mutation in the FXN gene. The FXN gene is responsible for encoding the iron binding protein known as frataxin. When there is a mutation in the FXN gene there are too many GAA repeats which decreases the level of frataxin. Frataxin is responsible for creating iron-sulfur clusters. When there is an insufficient amount of frataxin it causes an over abundance of mitochondrial iron which can damage several proteins in the nerve cells. Nerve cells are known as neurons. Neurons consist of 3 basic parts, the body, called the soma, the axon which is a long tail and dendrites which are tiny projections that branch off and connect to other neurons. The area of the nervous system most commonly affected is the cerebellum and the spinal cord. The cerebellum is the area in your brain responsible for your motor skills like balance and coordination as well as voluntary movements. Certain areas in your cerebellum are responsible for eye, head and neck movements and the spinal cord controls the voluntary muscle movements of your skeletal muscles. The symptoms that a person with Friedreich’s ataxia experience are caused by a slow progressive deterioration of the part of the neuron known as the axon on the neurons in both the brain and spinal cord. This prevents the electrical messages from effectively passing between neurons.
The symptoms of Friedreichs ataxia usually appear when the child is between 5 and 15 years of age, however, though uncommon they can appear as early as 18 months or as late as 75 years of age. The first symptom most people notice is the child has difficulty walking due to poor muscle coordination. as the disease progresses the ataxia or loss of muscle coordination spreads to the child’s arms and trunk. Frequently they lose sensation in their arms and legs that can also spread to other parts of their body. Other common symptoms include losing the tendon reflexes, mostly in their knees and ankles. Most children with this disorder also develop scoliosis, and it is usually severe enough to require surgical intervention. As the disease continues to progress children with Friedreich’s ataxia will have increasing difficulty with speech and many also develop vision and hearing loss. Some children also experience cardiac symptoms including chest pain, heart palpitations and shortness of breath.
there are also a variety of other health issues that usually accompany Friedreich’s ataxia including a variety of different cardiac issues like an enlarged heart and myocardial fibrosis, even heart failure as well as rhythm problems. Approximately 10% of all people with Friedreich’s ataxia develop diabetes while approximately 20% will develop an intolerance of carbohydrates.
The speed at which this disease progresses can vary significantly from person to person. In general, the person becomes confined to a wheelchair with in 10 to 20 years after their symptoms began, many become completely incapacitated in the later stages of the disease. Unfortunately, as is the case with many of the degenerative diseases of the nervous system, there is no cure or effective treatment currently available for Friedreich’s ataxia. However, in many cases if you are able to effectively manage the symptoms and the health issues that accompany the disease like diabetes or heart disease it improves your ability to maintain an optimal level of functioning for as long as possible.
There have been advances understanding the genetics of this disease which are leading to breakthroughs in treatment with there now being clinical trials currently in progress to treat this disease. Researchers are optimistic about the work being done and believe they are close to developing effective treatment and prevention strategies for this disease.
For information on clinical trials available contact the National Institute of Neurological Disorders and Stroke at the institutes Brain Resources and Information Network at www.ninds.nih.gov.
Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at firstname.lastname@example.org.