KUFS DISEASE--TYPE A and B
Adult Neuronal Ceroid Lipofuscinosis; Adult NCL; NCL Type 4; CLN4A; Kufs Disease; Kufs Type Neuronal Ceroid Lipofuscinosis
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. Kufs type A presents with seizures, myoclonus (abrupt spasms), ataxia (loss of coordination of the muscles), dementia, and dysarthria (difficulties with articulation). Kufs type B has dementia, ataxia, and extrapyramidal signs, but does not include seizures and dysarthria. Unlike other types of NCL, neither Kufs type A or type B has retinal degeneration or vision loss.
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
Diagnostic testing: The diagnosis of Kufs disease is based on clinical history, physical and neurologic exam. Clinical findings include myoclonus, ataxia, Parkinsonism, chorea, spasticity, and cognitive impairment. Biopsy of the skin or other tissues, when examined under the electron microscope, shows the typical accumulation of lipopigments in cells. In Kufs disease, these deposits have a characteristic fingerprint-type pattern. Electroencephalogram may be useful to document seizures. Genetic testing may show mutations in the CLN or PPT1 genes, but is not required for diagnosis.
ICD 9: 330.1
ONSET AND 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.
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:
Clinical history and examination that documents the diagnostic features, progressive neurological decline and family history obtained from the treating primary physician or neurologist
EEG reports (Kufs type A)
Tissue biopsy pathology reports
Activities of daily living reports
Suggested Listings for Evaluation:
Type A Kufs disease meets listing 11.02.
Type B Kufs disease medically equals listing 11.06.