CREUTZFELDT-JAKOB DISEASE (CJD) -
Adult
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ALTERNATE NAMES
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Jakob-Creutzfeldt Disease; Jakobs Disease; Subacute Spongiform Encephalopathy; Variant
(V-CJD) Bovine Spongiform Encephalopathy (BSE); Prion disease
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DESCRIPTION
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Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, invariably fatal brain disorder primarily characterized
by mental deterioration, although motor problems can be significant in many cases.
CJD belongs to a group of human and animal diseases known as transmissible spongiform
encephalopathies (TSE) or prion diseases. Spongiform refers to the characteristic
appearance of infected brains, which become filled with holes until they resemble
sponges under a microscope. Typically, onset of symptoms occurs at about age 60 and
runs a rapid course. There are four major categories of CJD: sporadic CJD, hereditary
CJD, acquired or iatrogenic CJD, and variant CJD.
Sporadic
CJD is the most common form of the disease. It accounts for 85% of cases. The cause of
sporadic CJD is unknown, but it is believed that a normal cellular protein undergoes
a spontaneous change in conformation (prion protein) that results in the disease.
This form of the disease is believed to be spontaneous and not the result of an infection.
Hereditary
or familial CJD is a very uncommon disease and the consequence of a mutation in the gene that encodes
the prion protein. About 5 to 10 percent of cases of CJD in the United States are
hereditary.
Acquired
or Iatrogenic CJD is also very rare accounting for less than 1% of cases. It results from the accidental
transmission during the course of medical interventions. Examples include transmission
in cases of corneal transplantation, dural grafts, or treatment with Human Growth
Hormone isolated from cadaveric pituitary glands.
Variant
CJD was first reported in 1996. It is believed to be the result of eating meat from cattle
with bovine spongiform encephalopathy (BSE or mad cow disease). In contrast with sporadic
CJD which affects older people, the variant form primarily affects young subjects
(i.e., in the late 20s) and may have a longer course, between one and two years.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing:
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Electroencephalography (EEG);
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Magnetic resonance imaging (MRI) of the brain;
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Cerebrospinal fluid analysis for 14-3-3 protein;
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Tonsil biopsy is helpful in the diagnosis of variant CJD, but less so in other forms
of the disease; and
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Brain biopsy is the definite diagnostic test, but is performed only in selected cases
because the procedure may be dangerous to the individual. Since a correct diagnosis
of CJD does not help the individual, brain biopsy is discouraged unless it is needed
to rule out a treatable disorder.
Physical findings:
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Rapidly progressing dementia with myoclonus (twitching);
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Problems with muscle coordination;
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Personality changes (impaired memory, judgement, and thinking);
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ICD-9: 046.19
ICD-10: A81.0
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PROGRESSION
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About 90 percent of patients die within 1 year. In the early stages of disease, patients
may have failing memory, behavioral changes, lack of coordination and visual disturbances.
As the illness progresses, mental deterioration becomes pronounced and involuntary
movements, blindness, weakness of extremities, and coma may occur.
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TREATMENT
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There is no treatment that can cure or control CJD. Current treatment is aimed at
alleviating symptoms and making the patient as comfortable as possible. Opiate drugs
can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve
involuntary muscle jerks.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical notes and results of neurological examination that establish the presence
of rapidly progressive dementia or neurodegenerative illness; and
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If available, ancillary studies, including spinal tap, cerebrospinal fluid analysis,
detection of 14-3-3 protein in spinal fluid, EEG, and brain biopsy are helpful as
supportive evidence.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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11.17
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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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