Friedreich's Ataxia: Symptoms, Diagnosis, Treatment
Published: 2009-04-01 - Updated: 2023-01-28
Author: Disabled World | Contact: Disabled World (Disabled-World.com)
Peer-Reviewed Publication: N/A
Library: Mobility Impairments Publications
Synopsis: Friedreich's Ataxia an inherited disease that causes progressive damage to the nervous system resulting in muscle weakness speech problems and heart disease. Ataxia results from the degeneration of nerve tissue in the spinal cord and nerves that control muscle movement in the arms and legs. Most people with Friedreich's Ataxia (FRDA) develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart palpitations.
- Friedreich's Ataxia (FRDA)
Friedreich's ataxia (FRDA) is a genetic, progressive, neurodegenerative movement disorder, with a typical age of onset between 10 and 15 years. Initial symptoms may include unsteady posture, frequent falling, and progressive difficulty in walking due to impaired ability to coordinate voluntary movements (ataxia). Affected individuals often develop slurred speech (dysarthria), characteristic foot deformities, and an irregular spine curvature (scoliosis). FRDA is typically associated with dysarthria, muscle weakness, spasticity, particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. There is currently no effective cure or treatment for FRDA. However, many symptoms and accompanying complications can be treated to help patients maintain optimal functioning as long as possible.
Alternate Names: Friedreich's Disease; Friedreich's Tabes; Hereditary Ataxia-Friedreich's type; Hereditofamilial Spinal Ataxia; Friedreich Ataxia; FA.
Ataxia results from the degeneration of nerve tissue in the spinal cord and nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear as early as 18 months or as late as 30 years of age.
The U.S. Social Security Administration (SSA) has included Friedreichs Ataxia (FRDA) as a Compassionate Allowance to expedite a disability claim.
Symptoms of Friedreich's Ataxia (FRDA) May Include
- Slurred speech
- Vision impairment
- Hearing impairment
- Loss of coordination
- Curvature of the spine (scoliosis)
- Muscle weakness in the arms and legs
- High plantar arches (pes cavus deformity of the foot)
- Heart disorders (e.g., atrial fibrillation, and resultant tachycardia (fast heart rate) and hypertrophic cardiomyopathy)
- Diabetes (about 20% of people with Friedreich's ataxia develop carbohydrate intolerance and 10% develop diabetes mellitus)
The first symptom is usually difficulty in walking.
The ataxia gradually worsens and slowly spreads to the arms and trunk.
Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning in) may be early signs.
Rapid, rhythmic, involuntary eyeball movements are common.
Most people with FRDA develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart palpitations.
Diagnosis of FRDA
Diagnosis includes a clinical examination, a medical history, and a thorough physical examination.
Several tests may be helpful, including nerve conduction studies, electromyogram (EMG), electrocardiogram, MRI, blood tests and urinalysis, and Holter monitor.
Genetic testing can confirm the chromosomal abnormality that causes this disease. Evidence of positive gene testing and gait ataxia is necessary to determine the underlying gene abnormality that results in this disease to confirm the diagnosis of FRDA.
There is currently no effective cure or treatment for FRDA.
However, many symptoms and accompanying complications can be treated to help patients maintain optimal functioning for as long as possible.
Diabetes and heart problems can be treated with medications.
Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong the use of the arms and legs.
The FRDA gene is present at birth. Generally, within 15 to 20 years after the appearance of the first symptoms, the person uses a wheelchair, and in later stages of the disease, individuals become completely incapacitated. Most people with FRDA die in early adulthood if significant heart disease is the most common cause of death. Some people with less severe symptoms live much longer.
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