A Hidden Neurological Threat
Frequently tripping, stumbling while walking, or struggling to button a shirt, tie shoelaces, or use keys are often dismissed as growing pains or fatigue. However, these motor difficulties can be the earliest warning signs of Friedreich ataxia (FA), a rare, inherited neurodegenerative disease that progressively destroys the nervous system and muscles.
What Is Friedreich Ataxia?
Friedreich ataxia is the most common form of hereditary ataxia worldwide, though it remains a rare condition overall. It is a genetic disorder that attacks the nerve pathways of the spinal cord and peripheral nerves, gradually reducing a patient’s motor autonomy and increasing the risk of severe systemic complicationsâparticularly those affecting the heart.
While the disease can be diagnosed at any age, the first clinical signs typically appear between the ages of 8 and 16. Due to its progressive nature, patients have an average life expectancy of 37 years, and most will require a wheelchair within 10 to 15 years after symptoms begin.
Stages and Symptoms
- Initial Phase (ages 8â16): Walking instability, frequent falls, loss of reflexes, and fine motor clumsiness. Difficulty with daily tasks such as buttoning clothes, using keys, or holding utensils.
- Intermediate Phase: Muscle spasms, slurred speech (dysarthria), generalized weakness, speech difficulties, loss of balance, and chronic fatigue.
- Advanced Phase: Trouble swallowing (dysphagia), scoliosis, high-arched feet (pes cavus), and increasing dependence on a wheelchair for mobility.
- Systemic Complications: Cardiomyopathy, arrhythmias, heart failure, and diabetes. These complications pose the greatest threat to life due to cardiovascular and endocrine involvement.
The Diagnosis Gap in Chile
Globally, the prevalence of Friedreich ataxia is estimated at 1 in 50,000 people. In Chile, this translates to a projected 380 cases. However, official records confirm only 30 diagnosed patientsâa stark indicator of widespread underdiagnosis or misdiagnosis during childhood and adolescence.
Dr. Susana Goncalves, Medical Director at Biogen, explains that FA affects essential body systems, making early diagnosis and ongoing neurological monitoring critical. âEarly detection and follow-up allow us to slow progression, preserve patient autonomy, and make a real differenceâbetween walking independently or relying on a wheelchair, speaking clearly or losing that ability,â she says.
The diagnostic process often takes up to seven years. During this time, symptoms such as absent knee-jerk reflexes, vision or hearing problems, and persistent balance issues are frequently mistaken for normal developmental quirks in teenagers.
Genetic Testing and Treatment
A definitive diagnosis requires a combination of a thorough neurological evaluation and a molecular genetic test that identifies mutations in the FXN gene. In Chile, several pharmacological treatments and multidisciplinary therapies are available to manage the condition.
Scientific evidence shows that early therapeutic intervention can reduce disease progression by up to 55%. This slowdown helps preserve essential daily functions such as eating, dressing, writing, speaking, and moving independently for longer periods.
Emotional Toll and Holistic Care
As physical decline accelerates, the psychological burden becomes severe. Anxiety and depression are common among patients and their families. Medical guidelines therefore recommend a comprehensive care approach that includes psychological support, physical therapy, and occupational therapy.
Raising Awareness
To promote education and early recognition, Biogen has launched a digital awareness campaign through the website www.hablemosdeataxia.cl. The platform offers a free, self-assessment quiz designed to help users determine whether their motor symptoms may be linked to Friedreich ataxia.
With better awareness and faster diagnosis, families can access life-changing treatments soonerâand potentially extend both the quality and duration of independent living.
Source: fayerwayer.com
