Neuronal ceroid lipofuscinoses (NCLS) refers to a group of rare, inherited disorders of the nerve cells.

There are three main types of NCLS:

• Adult (Kufs' or Parry's disease)
• Juvenile (Batten disease)
• Late infantile (Jansky-Bielschowsky)

Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs' disease; Spielmeyer-Vogt

NCLS is a type of neurodegenerative disorder. It involves the buildup of an abnormal material called lipofuscin in the brain. Evidence suggests that NCLS is caused by problems with the brain's ability to remove and recycle proteins.

Lipofuscinoses are inherited as autosomal recessive traits. That means if both parents carry the trait, each child has:

• A 1 in 4 chance of having the disease
• A 2 in 4 chance of not having the disease but carrying the trait
• A 1 in 4 chance of not having the disease and not being a carrier

• Abnormally increased muscle tone or spasm (myoclonus)
• Blindness or vision problems
• Dementia
• Lack of muscle coordination
• Mental retardation with decreasing mental function
• Movement disorder (choreoathetosis)
• Seizures
• Unsteady gait (ataxia)

The disorder may be seen at birth, but it is usually diagnosed much later.

Tests include:

• Autofluorescence (a light technique)
• EEG
• Electron microscopy of a skin biopsy
• Electroretinogram
• Genetic testing
• MRI or CT scans of the brain
• Tissue biopsy

Treatment depends on the type and extent of symptoms. You may need lifelong assistance and care.

For information and support, see www.bdsra.org.

The younger the person is when the disease appears, the greater the risk for disability and early death. Those who develop the disease early can have vision problems that progress to blindness, and problems with mental function that get worse. If the disease emerges in the first year of life, death by age 10 is likely.

If the disease occurs in adulthood symptoms will be milder, with no vision loss and a normal life expectancy.

• Vision impairment or blindness (with the early-onset forms of the disease)
• Mental impairment, ranging from severe retardation at birth to dementia later in life
• Rigid muscles (due to severe problems with the nerves that control muscle tone)

The person may become totally dependent on others for help with daily activities.

Call your health care provider if your child shows symptoms of blindness or retardation.

Genetic counseling is recommended if your family has a known history of NCLS. Prenatal or preimplantation genetic testing may be available depending on the specific type of disease.

Uncontrolled or slow movement is defined as a problem with muscle tone, usually in large muscle groups, that leads to slow involuntary contractions of the head, limbs, trunk, or neck.

See also:

• Movement - unpredictable or jerky
• Stereotypic movement disorder
• Tremor
• Uncoordinated movement
• Uncontrollable movements

Dystonia; Involuntary slow and twisting movements; Choreoathetosis; Leg and arm movements - uncontrollable; Arm and leg movements - uncontrollable; Slow involuntary movements of large muscle groups; Athetoid movements

The slow sinuous twisting movements of muscles (athetosis) or sustained muscle contraction (dystonia) may be caused by a number of conditions, including cerebral palsy, encephalitis, drug side effects, a liver disease called hepatic encephalopathy, and Huntington's chorea.

Additionally, there are situations where two conditions, for example both a brain injury and a medication, interact to cause the abnormal movement when neither alone would cause a problem.

The abnormal movement may be reduced or disappear during sleep, but emotional stress makes it worse. Abnormal and sometimes grotesque postures may occur because of these movements.

• Encephalitis
• Hepatic encephalopathy
• Medication side effects
• Cerebral palsy
• Genetic diseases
• Stroke

Get adequate sleep and avoid excessive stress. In severe cases, take safety measures to avoid injury. Follow prescribed therapy for treatment of the underlying cause.

• There is unexplained dystonia.
• The problem is getting worse.
• Uncontrolled movements are accompanied by other symptoms.

The doctor will perform a physical exam. The physical examination may include a detailed examination of the nervous and muscular systems.

The doctor will ask questions about your medical history and symptoms, including:

• When did you develop this problem?
• How long have you had it?
• Is it always the same?
• Is it always present or only occasionally?
• Is it getting worse?
• Is it worse after exercise?
• Is it worse during times of emotional stress?
• Has you been injured or in an accident recently?
• Has you been sick recently?
• Is it better after you sleep?
• Does anyone else in your family have a similar problem?
• What other symptoms do you have?
• What medications are you taking?

Diagnostic tests that may be performed include:

• CT scan or MRI of the head or affected area
• EEG
• Lumbar puncture
• Urinalysis
• Blood studies (such as CBC or blood differential)
• Genetic studies known gene abnormalities
• EMG and nerve conduction velocity studies (occasionally done)

Fahn S. Hypokinesia and hyperkinesia. In: Goetz, CG, ed. Textbook of Clinical Neurology. 3rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 16.

Lang A. Other movement disorders. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 434.