Friedreich’s Ataxia

rare progressive disease resulting from mitochondrial dysfunction

aadc dopamine deficiency
0 %

Wheelchair
Bound by 45

1:50,000
Prevalence

10

Yrs Avg
Age of Onset

10

Yrs Avg
Survival

Rare Inherited Disease

Friedreich’s Ataxia

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.

About Friedreich's Ataxia

Friedreich’s Ataxia Symptoms

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:  

  • Gait Ataxia: loss of muscle control that affects a patients’ gait. It is characterized by irregular foot placement, wider foot base and general instability whilst walking.
  • Upper-Limb Ataxia: loss of muscle control that causes patients’ to become overly clumsy.
  • Dysarthria: difficulty articulating words that would typically be linguistically correct.
  • Dysphagia: difficulty swallowing, may advance and increase the risk of choking on foods and liquids.
  • Pes cavus and talipesequinovarus: Scoliosis and foot deformities can range from mild to debilitating.
  • Spasticity: can also develop over time and lead to discomfort, posture problems, as well as pain and contractures.
  • Bladder dysfunction: approx. 15-20% of patients are reported to develop bladder hyperactivity.
  • Sensorineural loss: most common form of hearing damage caused when damage occurs to the hair cells within the cochlea.
  • Abnormal Pyramidal Signs: improper supply of motor neurons via the corticobulbar tract and corticospinal tract responsible for innervating muscles in the head and face, and limbs and trunk respectively.
  • Distal Sensory Loss: abnormal loss of sensation in the distal portions of the limbs and extremities. Approx. 25% of patients are reported to be wheelchair bound by the age of 25, with 95% requiring constant use by the age 45).
  • Areflexia: the absence of deep tendon reflexes.
  • Scoliosis: abnormal spine curvature.
  • Hypertrophic Cardiomyopathy: a type of cardiomyopathy, chronic heart disease, in which muscles in the heart becomes thickened/hypertrophied.
  • Fatigue: Many symptoms of FA hinder the body’s physical functions, and thus, fatigue as a result is common consequence.

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.

Friedreich’s Ataxia

Causes

Friedreich’s Ataxia Diagnosis

Those suspected of developing FA may undergo series of medical tests in order to accurately confirm diagnosis. This can include Electrocardiograms (ECG), MRI scans, Motor nerve conduction studies, as well as Genetic testing.

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Friedreich’s Ataxia Treatments

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.

Improved Mobility

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.

Speech Therapy

In cases where FRDA/FA affects a patient’s ability to pronounce words and form sentences a speech therapist may also be necessary. 

Medications

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

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.

Have questions?

Friedreich’s Ataxia Frequently Asked Questions

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.

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