KUFS DISEASE -- TYPE A and B
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ALTERNATE NAMES
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Adult Neuronal Ceroid Lipofuscinosis; Adult Onset Neural Ceroid Lipofuscinosis; Adult
NCL; NCL Type 4; NCL4; CLN4A Disease; CLN4B Disease; Kufs Disease; Kufs Type Neuronal
Ceroid Lipofuscinosis
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DESCRIPTION
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Kufs disease is an adult type of inherited neurodegenerative lysosomal storage disease (neuronal
ceroid lipofuscinosis, or NCL) where abnormal fats and proteins (lipopigments) accumulate
in the nervous tissue, causing progressive motor and cognitive deficits. There are
two forms of Kufs disease with different but overlapping clinical manifestations:
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: The diagnosis of Kufs disease is based on:
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Clinical history documenting changes in motor, behavioral, and cognitive function;
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Biopsy of the skin or other tissues showing accumulation of lipopigments in cells
with characteristics fingerpring-type pattern;
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Electroencephalogram (EEG) documenting seizures; and
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Genetic testing showing mutations. (This testing may be helpful but is not required
for diagnosis.)
Physical findings: There are two forms of Kufs disease with different but overlapping clinical manifestations.
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Myoclonus (abrupt spasms);
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Ataxia (loss of coordination of the muscles);
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Parkinsonism (slowed movements, rigidity, and tremors);
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Chorea (involuntary movements of the limbs or facial muscles);
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Spasticity (stiff or rigid muscles);
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Dysarthria (difficulties with articulation);
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Facial dyskinesia (involuntary, erratic, writhing movements of the face, arms, legs
or trunk);
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Extrapyramidal (movement dysfunction) signs.
ICD-9: 330.1
ICD-10: E75
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PROGRESSION
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The clinical manifestations of Kufs disease usually appear approximately at age 30
years, but the range of onset age spans from adolescence to late adulthood. The disease
is progressive and most affected individuals survive approximately ten years after
onset of the symptoms.
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TREATMENT
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There is no treatment to cure or slow down the progression of Kufs disease.
Anticonvulsive drugs are helpful to control seizures and myoclonic jerking.
Physical, speech, and occupational therapies, can help individuals function for as
long as possible. Experimental therapies, including gene therapy, are used for NCL
disorders.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that documents the diagnostic features, progressive
neurological decline, and family history obtained from the claimant’s medical source(s);
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EEG reports (Kufs type A);
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Tissue biopsy pathology reports; and
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Activities of daily living reports.
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Suggested Listings for
Evaluation: |
DETERMINATION
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LISTING
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REMARKS
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Meets
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11.02
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11.17
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12.02
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Equals
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11.04
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11.06
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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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