Living with FA
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How is Friedreich's Ataxia Diagnosed

The first signs and symptoms are manifested either by a coordination disorder of the gait or by excessive fatigue and imbalance when using the stairs. If you ever experience these symptoms, contact a neurologist and he will refer you to other doctors.

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Electrocardiogram (EKG), which gives a graphic presentation of the electrical activity or pattern of the heartbeat
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Magnetic resonance imaging (MRI) or computed tomography (CT) scan, which provides a picture of the brain and spinal cord
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Electromyography (EMG) for evaluating and recording the electrical activity
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Echocardiogram, which records the position and motion of the heart muscle
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DNA taken from the blood cells for genetic testing

Once the diagnosis is set, other tests should be prescribed by the specialized doctor:

Cystomanometry


conducted by an urologist in case of bladder disorder

Blood and urine tests


to check for elevated glucose levels

IMPORTANT:
The neurologist is the first to diagnose Friedreich's Ataxia and he or she is the one in charge of referring the patient to other doctors; every test should be prescribed by the specialized doctor.

There is, currently, no pharmacological intervention to cure or delay the progression of FA, although multiple promising pharmacological trials are in progress and new therapies to restore mitochondrial function and genetic therapy are being appraised. Researchers are optimistic that they will soon be closer to understanding the causes of the disease, which eventually will help scientists develop effective treatments and prevention strategies for Friedreich's Ataxia.

http://www.curefa.org/pipeline

However, many of the symptoms associated with Friedreich's Ataxia can be treated or controlled.

Treatments to maximize quality of life with Friedreich's Ataxia

To improve the autonomy and capacity of the patient suffering from FA, the patient requires continuous monitoring and regular check-ups with the physiotherapist, psychologist, speech therapist, cardiologist, and the attending physician for a better quality of life.

Physical rehabilitation plays an important role in the treatment of this disease in order to improve the quality of life and functional independence of individuals living with FA, particularly for the management of the negative effects of the disease on mobility and function.

Physical therapy aims to prolong motor function, or the ability to walk, and achieve a better quality of life as long as possible while minimizing pain, deformity, immobility, and disability.

A rehabilitation intervention exists even when a patient becomes wheelchair dependent, in order to maintain and strengthen his or her ability to move from one position to another, for instance standing up from the wheelchair seat with adequate positioning using support, as well as sitting back down safely in the wheelchair. This is called “step transfer” and could be used as a focus of therapy.

Different therapies to undertake that
would make living with Friedreich's Ataxia more bearable

 

Physical therapy
Physical therapy for the coordination and control of movement, balance of the gait, improvement of the reflexes, and mobility.
Functional training
Functional training and hydrotherapy to reinforce the core, upper, and lower muscles, for better rehabilitation and smoother mobility. Strength and coordination go together, in addition to better blood flow.
Speech therapy
Speech therapy to acquire breathing techniques and speech impairments. Given the harmful impact of speech disorder on a person's functioning, treatment of speech impairment in these conditions is important and evidence-based interventions are needed.
Psychological Therapy
Systemic familial therapy/psychological therapy and life coaching to help the person afflicted with FA and his surrounding with a range of problems, from depression and low self-esteem to accept & cope with FA.

Different supplements, medications, and technical aids are prescribed in case of issues such as diabetes, cardiomyopathy, muscular spasms, hearing and vision impairment, and foot deformities.

Important

It is highly recommended to consult with his neurologist, cardiologist and physical doctor to assess his or her capacities and limits before undertaking any therapy and starting any medication.
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info@falassociation.org
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