Friedreich ataxia is a degenerative nerve disorder that can be passed on through generations without even the knowledge of either parent. It was named after the German physician, Dr. Nikolaus Friedreich, who first diagnosed the disease during the mid 1860’s. This is quite a rare disease since one can only be affected if both of his parents have the defective gene known as Frataxin which is located in chromosome 9. However, it is considered the most common inherited ataxia affecting both genders equally.
How is the individual with Friedreich Ataxia affected?
This condition shortens the life expectancy of the bearer. Its progression rate maybe slow, but most of the time is unpredictable. People having the disease are fully incapacitated after 15 years since the first symptoms appeared. It would appear during the first 10 years or early childhood. However, some would have a late onset and develop symptoms at the age of 75.
It is a fatal disease since it affects every nerve cell in the body. Nerve cells are the communication network in the body, thus any disturbance can cause substantial damage. This disease deteriorates the spinal cord and peripheral nerves causing muscular weakness and coordination. This would also include the heart muscles which lead to fibrillation, tachycardia and even cardiomyopathy.
Symptoms of Friedreich Ataxia
The distinguishing symptom of the condition is called the pes cavus. This is a deformity in the foot in which there is fixed plantar flexion. This would cause the middle of the foot to have a high arch and thus leaving a hollow space for weight bearing. This is mostly the reason why patients are in walking aids including wheelchair.
People experiencing from Friedreich ataxia easily tires and has a compromised immune system. This would mean that they recover twice longer than normal individuals would during illnesses. It is wise to take precaution by taking in supplements and staying away from crowded places.
Diagnosis and Treatment of Friedreich Ataxia
There are different diagnostics to recognize the condition. This includes but not limited to radiologic examinations, biopsy and testing of the Frantaxin gene. All of which would reveal abnormal nerve conduction, muscular and skeletal problems and digestive disturbances. In the later stage, carbohydrate and glucose intolerance may occur.
Up until now, there has been no medicine or treatment that has proven to cure the disease. All methods used are only to slow down the progression or manage its symptoms. These are done to sustain optimal functioning as possible. A drug known as Idebenone is still in its testing stages and yet to be approved by the appropriate officials.
For now, health providers are mainly focusing on symptomatic cures. For heart problems, ACE inhibitors may be used. Orthopedic abnormalities can be addressed through braces or surgical insertion of a rod in the spine to prevent further curvature. Also, conservative treatments such as physical and speech therapy is widely used. This is to allow the individual to maintain a normal life as one could have.
People with Friedreich ataxia surely deserve all the care that anyone can give. If you suspect that you have the defective gene, please don’t hesitate to have genetic counseling. This is to avoid passing the condition to your beloved children.
