TN 8 (11-12)
DI 23022.949 Fatal Familial Insomnia
COMPASSIONATE ALLOWANCE INFORMATION
FATAL FAMILIAL INSOMNIA
Insomnia Fatal Familial
Fatal Familial Insomnia (FFI) is a rare, genetic sleep disorder caused by prion mutation of the PRNP gene. These mutations lead to degeneration in the thalamus, the part of the brain responsible for sensory perception and regulation of motor function. FFI is characterized by insomnia with or without a diurnal dream state, hallucinations, delirium, and dysautonomia (abnormal functioning of the autonomic nervous system), followed by motor and cognitive deterioration, coma and ultimately leads to death.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Diagnostic testing: Electroencephalography, MRI of the brain, sleep apnea testing, evidence of mutations in the PRNP gene.
Physical findings: Difficulty sleeping, high pulse and blood pressure, excessive sweating, and decline in coordination and motor ability.
ONSET AND PROGRESSION
FFI is a progressive sleep disorder that usually begins in adulthood and leads to death within 6 to 32 months.
There is no cure for FFI. Treatment is symptomatic and palliative.
SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for evaluation:
Clinical history and examination that describes the diagnostic features of this impairment.
Appropriate laboratory testing, including genetic testing showing mutations in the PRNP gene.
Suggested Listings for Evaluation:
11.17 A or B
Listing level severity must be documented.
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.