ALTERNATE NAMES

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

DESCRIPTION

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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  Kufs type A, and

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  Kufs type B.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

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 fingerprint-type pattern;

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  Enzyme essays;

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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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  Seizures;

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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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  Dementia; and

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  Extrapyramidal (movement dysfunction) signs.

ICD-9: 330.1

ICD-10: E75

PROGRESSION

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.

TREATMENT

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.

SUGGESTED PROGRAMMATIC ASSESSMENT*

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.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.02

11.17

12.02

Equals

11.04

11.06