Friedreich’s Ataxia (also known as FRDA or simply FA) is a rare, inherited genetic condition that causes early-onset ataxia due to a deficiency in an essential protein called frataxin. This deficiency can lead affect several important parts of the body including the heart, the skeletal system, the muscles, the pancreas, and the nervous system.
Despite being an extremely rare condition, Friedreich’s Ataxia is the most common form of ataxia; a group of diseases characterized by loss of muscle coordination in the arms and legs.
There are numerous signs and symptoms of FA; most are related to loss of mobility, whilst others can affect sensory ability, hearing difficulties and trouble speaking.
Simply signs of clumsiness are usually the first signs to appear, followed by, or simultaneously presented with mental problems, and eventually pyramidal signs. As patients age, the symptoms become progressively worse, and eventually develop to the point where mobility becomes impossible without assistance.
There are many different signs and symptoms of FA, these can include:
In addition, approx. 8-39% of cases are reported to develop difficulty in the process of decoding and determining different sounds (Auditory Neuropathy), approx. 66% develop disease of the heart muscles (cardiomyopathy) and up to 30% have diabetes mellitus due to the damage also inflicted on the pancreas.
Despite the fact FA can present with many different symptoms, the condition has not been shown to affect intelligence.
Currently there is no effective cure for FRDA, however treatment involves a multidiscipline approach that focuses on managing symptoms and complications of the condition with relative effectiveness.
The best care provided to suffers will likely be devised by a group of specialists including Cardiologists, Endocrinologists, Medical and biochemical geneticists, Physical Therapist, Orthopaedic Surgeon, Speech-Language Pathologist, Pediatric or adult neurologist, Psychologist and or Occupational therapist.
Those suffering with FRDA/FA who respond particularly well to treatments, have a mean life expectancy of 4—50 years old. However by the ages 25-30, more than 25% of patients require the use of a wheelchair, and 95% of those who survive into their 40’s and 50’s require constant use of a wheelchair.
Since there are no currently cures for FA, these treatments must be adhered to for life.
Physical therapy, stretching routines, together with the use of walking aids such as walking sticks, frame splints, corrective braces, and wheelchairs, can all help patients retain an active lifestyle, or at least some level of self dependent mobility.
In cases where FRDA/FA affects a patient’s ability to pronounce words and form sentences a speech therapist may also be necessary.
Two pharmacologic agents (baclofen and botulinum toxin) may also be administered to treat spasticity, and anti-coagulants can be given to help prevent the development of cardiac diseases.
Patients who develop diabetes mellitus can often be treated using standard insulin, and similarly, heart conditions can also be managed using standard medications.
Psychological counseling can be offered at any point, and should be considering at any point the patients feels the disease, symptoms, or life changes and challenges being more troubling to manage than typically everyday encounters.
Unfortunately there is currently no completely cure for FRDA/FA, however symptoms are manageable so patients can typically retain a good quality of life.
Treatment can include varying techniques including physical therapy, speech therapy, feeding via endoscopic gastrostomy, and counseling.
Those who respond well to the treatment of symptoms can survive several decades into adulthood. However, the disease is progressive, and symptoms, as well as quality of life will worse over time.
Although FRDA/FA is the common form of ataxia it is still very rare. The Cleveland Clinic reports that as few as 1 in every 50,000 people in the states are diagnosed with the condition, whereas worldwide the estimated increases to 1 in ever 40,000.
New treatments for FRDA/FA are currently under developments. Keep up to date with information from online resources such as the National Organization for Rare Disorders (NORD), or the Genetic Rare Diseases Information Center (GARD).
Also look into clinical trials and the results of experimental treatments at the clinical trials at https://www.clinicaltrials.gov/
Also ask your doctor about clinical trials, and/or resources both in person and online where others suffering with FRDA/FA share their experiences living with the condition.