FATAL FAMILIAL INSOMNIA

ALTERNATE NAMES

Insomnia Fatal Familial

DESCRIPTION

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.

ICD-9: 046.72

ONSET AND PROGRESSION

FFI is a progressive sleep disorder that usually begins in adulthood and leads to death within 6 to 32 months.

TREATMENT

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:

DETERMINATION

LISTING

Meets Listing

11.17

Medical Equals