Batten Disease

Batten disease is a very rare condition that is seen in 2 – 4 infants out of every 100,000 newborns in the United States. Read and know all about this disorder including its causes, symptoms, diagnosis and treatment.

What is Batten Disease?

It is a fatal autosomal recessive condition that arises during childhood and causes neurodegenerative problems in sufferers. It is the most common form of a rare group of acquired nerve cell disorders known as Neuronal Ceroid Lipofuscinoses (NCLS). This condition is sometimes referred to as a juvenile form of NCLS.

Batten Disease

Picture 1 – Batten Disease

Batten Disease History

Batten Disease (BD) actually owes its name to Dr. Frederick Batten who first reported about the condition in 1903. It was the research of this British pediatrician that led to the recognition and classification of this disorder as an isolated disease.

Batten Disease Types

The condition has been classified into three main types:

Infantile NCL (Santavuori-Haltia disease)

It usually develops at any time from 6 months to 2 years after the birth of an infant. The symptoms of this disease progress rapidly. Children affected by this disease fail to grow properly and suffer from Microcephaly (a condition characterized by an underdeveloped brain and abnormally small head). Many patients of this form also typically suffer from short, sharp muscular contractions known as Myoclonic jerks. Patients of Infantile NCL have a very low lifespan with most sufferers never making it beyond 5 years of age. Some patients have been found to survive for a few more years, though in a vegetative condition.

Late infantile NCL (Jansky-Bielschowsky disease)

This form strikes between 2 and 4 years of age. Its early signs typically include loss of muscle coordination (Ataxia) and seizures that fail to show any response to drugs. The condition has a rapid progression and causes death at any time between 8 and 12 years of age.

Adult NCL (Parry’s disease or Kufs’ disease)

It is a very rare form of BD that affects adults. The condition usually arises before patients are 40 years of age and gives rise to moderate symptoms that have a gradual progression. This form shortens lifespan of suffering individuals although the age of death varies from one person to another. Fortunately, this variation does not lead to blindness.

Batten Disease Synonyms

The disorder is known by many other names like:

  • Spielmeyer-Vogt-Sjögren-Batten Disease or Batten disease
  • Lipofuscinoses
  • Jansky-Bielschowsky disease
  • Kufs’ disease
  • Spielmeyer-Vogt disease
  • Neuronal Ceroid Lipofuscinoses (NCLS)

Batten Disease Symptoms

The symptoms of Batten disease progress at different paces and become evident at different ages. Initial symptoms of the disease generally manifest around ages 4-10 and include:

  • Seizures
  • Slow onset of vision problems
  • Subtle personality changes
  • Subtle behavioral alterations
  • Regression (slow learning)
  • Echolalia (repetitive speech)
  • Clumsiness
  • Stumbling
  • Poor circulation in lower body regions (legs and feet)
  • Scoliosis (curvature of the spine)
  • Reduced muscle mass
  • Lowered body fat
  • Hyperventilation (increased depth and rate of breathing)
  • Teeth grinding
  • Breath-holding spells
  • Constipation

Over time, children affected with this condition may suffer from mental retardation with diminishing mental capabilities. They may also suffer from progressive worsening of seizures, eyesight, motor skills and speech functions. Ultimately, sufferers can become bedridden, blind and demented. They also suffer from problems like:

  • Clonic spasm of a specific muscle or a group of muscles (Myoclonus)
  • Unsteady gait (Ataxia)
  • Lack of muscle coordination
  • Movement disorder (Choreoathetosis)

The disease lowers lifespan of sufferers. The life expectancy of patients varies depending on the type that they are suffering from.

Batten Disease Causes

The disease is generally associated to an accumulation of an abnormal substance, known as Lipofuscin, in the brain of a person. This condition is acquired as an autosomal recessive trait, meaning a child inherits it from both parents. If both parents are carriers of this trait, every offspring can have

  • 1 in 4 chance of suffering from the disease
  • 2 in 4 chance of not suffering from the disease but acting as a carrier of the trait
  • 1 in 4 chance of neither suffering from the disease nor acting as a carrier

A minimum of eight genes have been discovered and linked with the origin of Batten disease. However, Juvenile NCL, which is the most dominant form of BD has been associated to mutations in the CLN3 gene. It is this mutation that results in an accumulation of Lipofuscins in the tissues of the body. Lipofuscins comprise of proteins and fats and give rise to some distinct features that give rise to the symptoms and make the substance visible under an electron microscope.

It is as a consequence of genetic mutation and Lipofuscins deposition that the ability of the brain to remove and recycle proteins gets impaired.

Batten Disease Diagnosis

The disorder, though possibly apparent at birth, is generally diagnosed much later. The diagnosis of Batten disease depends on the discovery of Lipofuscins deposits in skin samples. It is also based on the identification of any of the eight genes that are believed to result in various types of Batten disease in adults or children. If these genes are detected, gene replacement therapy or any other similar method can be considered for treatment.

Vision loss is often an early sign of this condition. Because of this, Batten disease may be first diagnosed during an eye examination. Frequently, an eye specialist refers the sufferer to a neurologist.

Other diagnostic tests for this condition include:

  • Blood tests
  • Urine tests
  • Skin sampling
  • Tissue sampling
  • Electroencephalogram (EEG) test
  • Electrical examination of the eyes
  • Brain scans
  • Autofluorescence test
  • Electroretinogram
  • Electron microscopy of a skin biopsy
  • Tissue biopsy
  • CT scans of the brain
  • MRI scans of the brain
  • Genetic testing

Batten Disease Treatment

As of now, there is no known cure that can stop or reverse the symptoms caused by this disorder. Treatment for the condition is basically symptomatic and depends on the form and severity of symptoms. Patients of this syndrome typically require life-long assistance and care. In some patients, anticonvulsant drugs are used to control or reduce seizures. Other medications and curative methods depend on the symptoms that arise and aim to provide patients with maximum comfort. Occupational therapy and Physical therapy may help affected people retain functioning as long as they can.

The use of gene therapy in recent years has raised hopes for developments in treatment. In 2006, experiments conducted with medicines developed from stem cell products have shown some encouraging results for this condition.

Batten Disease Prognosis

The younger the age of a patient during the first appearance of the disease, the greater is the risk of disability or premature death. Individuals who develop this condition early in life can suffer from progressive vision problems that ultimately lead to blindness. They may also suffer from impairments of mental capabilities that become worse with time. If the disorder arises in the first year of life, patients are likely to die before they are 10 years old.

As time progresses, children affected with this disease may go on to suffer from

  • Mental impairment
  • Deteriorating seizures
  • Progressive loss of vision
  • Gradual loss of motor skills

Ultimately, suffering children turn blind, demented and bedridden. The condition often turns fatal by the time patients are in their late teen years or twenties.

If the disease arises during adult years, symptoms are likely to be moderate with no loss of eyesight. Patients can have a normal lifespan in such cases.

Batten Disease Complications

The condition may give rise to certain complications like:

  • Blindness or eyesight impairment (in case of the early-onset forms)
  • Mental impairment, that ranges from severe retardation at birth to Dementia at a later stage in life
  • Muscular rigidity (due to acute problems with the nerves that control muscle tone)

As a result of such health complications, a patient may become entirely dependent on his or her friends or family members to carry out daily activities.

Batten Disease Prevention

If you have a medical history of NCLS in your family members, it is recommended for you to undergo genetic counseling. Depending on the particular type of disease, Preimplantation or Prenatal genetic testing may be used. This can help in the prevention of this condition.

Beyond Batten Disease Foundation

It is an organization founded to eradicate this disorder. The institute raises awareness and collects funds to speed up research for this disease and find its cure.

The registered address of this association is:

Beyond Batten Disease Foundation

P.O. Box 200998

Austin, TX 78720

Tax I.D. Number: 26-3223661

You may contact the association at:

Tel: 512-275-2600 or 1-877-6BATTEN

Fax: 512-835-4687

Email: info@beyondbatten.org

If your child shows symptoms of retardation or blindness, get in touch with your health care provider immediately. If diagnosed and cured properly in time, the symptoms can be reduced or reversed and your kid may live normally with little or no problems.