Program Operations Manual System (POMS)
TN 34 (08-20)
DI 23022.165 Friedreich's Ataxia (FRDA)
COMPASSIONATE ALLOWANCES INFORMATION
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FRIEDREICH'S ATAXIA (FRDA) |
ALTERNATE NAMES
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Friedreich's Disease; Friedreich's Tabes; Hereditary Ataxia-Friedreich's type; Hereditofamilial
Spinal Ataxia; Friedreich Ataxia; FA
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DESCRIPTION
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Friedreich's Ataxia (FRDA) is an inherited neurodegenerative disease that causes progressive damage to the nervous
system resulting in symptoms ranging from muscle weakness and speech problems to heart
disease. Ataxia results from the degeneration of nerve tissue in the spinal cord and
of 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.
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DIAGNOSTIC TESTING,
PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING |
Diagnostic
testing: Diagnosis of FRDA may be confirmed by:
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Nerve conduction studies;
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Magnetic Resonance Imaging (MRI);
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Blood tests and urinalysis; and
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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.
Physical
findings:
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Ataxia (lack of voluntary coordination of muscle movements);
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Foot deformities, such as clubfoot, flexion (involuntary bending) of the toes, hammer
toes, or foot inversion (turning in);
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Nystagmus (rapid, rhythmic, involuntary movements of the eyeball);
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Scoliosis (a curving of the spine to one side);
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ICD-9: 334.0
ICD-10: G11.1
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PROGRESSION
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The FRDA gene is present at birth. Generally, within 15 to 20 years after the appearance
of the first symptoms, the person is confined to a wheelchair, and in later stages
of the disease, individuals become completely incapacitated. Most people with FRDA
die in early adulthood if there is significant heart disease, the most common cause
of death. Some people with less severe symptoms live much longer.
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TREATMENT
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There is currently no effective cure or treatment for FRDA. However, many of the symptoms
and accompanying complications can be treated to help patients maintain optimal functioning
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 use of the arms and legs.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Genetic testing for the FRDA gene; and
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Clinical evaluation with history and complete neurological examination.
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Suggested Listings for Evaluation:
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DETERMINATION |
LISTING
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REMARKS
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Meets |
11.17 |
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111.17
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Equals |
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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