Understanding a Rare Disorder
Friedreich’s Ataxia is a genetic disorder that primarily impacts the nervous system and heart. Over time, it progressively damages the body, making routine tasks increasingly difficult. In this guide we explore ten common symptoms of Friedreich’s Ataxia along with several treatment options, including the prescription drug Skyclarys.
10 Signs and Symptoms of Friedreich’s Ataxia
1. Impaired Coordination
Activities that once required precise movements, such as writing or fastening buttons, can become problematic. The loss of fine motor skills can affect hand movements and complicate everyday activities.
2. Muscle Weakness
Gradual weakening of the muscles in the arms and legs is common. This loss of strength can make running, lifting objects or standing without support increasingly difficult over time.
3. Unsteady Walking
Many individuals with Friedreich’s Ataxia experience an unsteady gait, or walk, due to balance issues. As the condition advances, walking may become slower and more challenging.
4. Speech Difficulties
Some people may find that their speech becomes slurred or less distinct. The weakening of the muscles involved in talking can make communication more challenging as the disease progresses.
5. Diminished Reflexes
The natural reflex responses, such as the knee-jerk reaction during a doctor's examination, can be noticeably reduced or even absent due to nerve damage that disrupts normal bodily responses.
6. Foot Abnormalities
Many affected individuals develop irregularities in foot structure, such as hammer toes, where the toes bend unnaturally, often leading to discomfort while walking.
7. Spinal Curvature (Scoliosis)
A curving of the spine may occur when the supporting spinal muscles weaken, potentially causing discomfort or pain. In some instances, this curvature might require medical intervention.
8. Cardiac Issues
Friedreich’s Ataxia can impact cardiac function, causing the heart to work harder than usual. This may result in irregular heartbeats or an enlarged heart, which are conditions that necessitate careful monitoring by healthcare professionals.
9. Diabetes Risk
In some cases, the disorder may contribute to the development of diabetes by impairing the body’s ability to regulate blood sugar levels, thereby requiring careful management through diet and medication.
10. Loss of Sensation
Nerve damage may lead to reduced sensitivity in the extremities, causing numbness or tingling in the hands and feet. This diminished sensation can also interfere with body awareness and coordination.
Treatment Options for Friedreich’s Ataxia
Although there is currently no cure for Friedreich’s Ataxia, there are many therapies available that can help manage symptoms and enhance quality of life.
1. Skyclarys
Skyclarys (omaveloxolone) is a newer prescription medication intended to slow the progression of Friedreich’s Ataxia. It functions by stimulating a specific pathway that reduces inflammation, improves nerve function and ultimately decreases the severity of symptoms.
2. Assistive Devices
Using supportive devices like braces, walkers or wheelchairs can enhance mobility and safety. These aids not only help prevent falls, but also contribute to greater independence in day-to-day routines.
3. Cardiac Medications
Given the frequent involvement of the heart in Friedreich’s Ataxia, doctors may prescribe medications to support heart health. These drugs can help regulate heart rhythm and reduce strain on the heart.
4. Physical Therapy
Engaging in physical therapy is crucial for maintaining and improving muscle strength and flexibility. A dedicated therapist can design a tailored exercise routine that boosts balance, reduces the risk of falls and helps maintain overall mobility.
5. Occupational Therapy
This form of therapy is designed to simplify daily tasks. Occupational therapists can offer adaptive techniques or tools to assist with activities such as dressing, cooking or writing.
6. Speech Therapy
Since speech difficulties can occur with Friedreich’s Ataxia, working with a speech therapist can be beneficial. Through targeted exercises and strategies, patients can improve articulation and overall communication skills.
7. Nutritional Guidance
A balanced, healthy diet is a crucial component of managing overall well-being. Customized nutritional plans can help those with Friedreich’s Ataxia manage energy levels and support heart health.
8. Surgical Intervention
In severe cases, especially where significant scoliosis or other complications exist, surgery may be recommended. Corrective procedures can help relieve pain and improve posture, though they are generally considered only after other methods have been tried.
Living with Friedreich’s Ataxia can present significant challenges, but increased awareness of symptoms and a variety of treatment options can make a substantial difference. Although the condition may alter mobility and other bodily functions, choosing the right management strategies can help maintain a fulfilling quality of life.