What are the other Names for this Condition? (Also known as/Synonyms)

• Diffuse Cerebral Sclerosis of Schilder
• Myelinoclastic Diffuse Sclerosis
• Schilder Disease

What is Schilder's Disease? (Definition/Background Information)

• Schilder's Disease is a very rare variant of multiple sclerosis (MS) that is characterized by the progressive degeneration of the central nervous system and demyelination of the nerves
• The cause of the condition is currently unknown, but factors such as a family history or being of Northern European descent is known to increase the risk for developing Schilder's Disease
• The condition usually begins in children and young adults. Children with Schilder's Disease may experience weakness in one side of the body, and a gradual loss in awareness and control of bodily functions
• A healthcare provider can diagnose the condition based on imaging techniques that must meet specific diagnostic criteria (as proposed by Poser). Upon diagnosis, the treatment options for Schilder's Disease will be supportive and more-or-less follow similar guidelines as treatment for multiple sclerosis
• Currently, no effective methods for preventing Schilder's Disease have been identified. The prognosis for Schilder's Disease is unpredictable, but complications such as frequent infections, depression, and severe malnutrition, may worsen the prognosis

Who gets Schilder's Disease? (Age and Sex Distribution)

• Schilder's Disease is a very rare condition that begins to present symptoms during childhood and young adulthood; although, children between the ages of 5 and 14 years are affected more
• Both males and females are affected; some healthcare professionals inform that males are more likely to be affected by Schilder's Disease
• Individuals of different racial and ethnic backgrounds can be affected; no particular preference is seen

What are the Risk Factors for Schilder's Disease? (Predisposing Factors)

Specific factors that increase the risk for developing Schilder's Disease are unknown. Schilder's Disease is a variant of multiple sclerosis (MS) and the following factors may increase one’s risk for multiple sclerosis:

• Family history of multiple sclerosis
• People living in countries with temperate climate such as Southern Canada, Northern United States, New Zealand, and Europe
• People of Northern European descent have an increased risk, for some unknown reason
• Presence of autoimmune diseases, such as type 1 diabetes mellitus and thyroid disease
• Smoking

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Schilder's Disease? (Etiology)

• Currently, the cause of Schilder's Disease is unknown. Healthcare professionals have observed that the condition arises after infectious illnesses, specifically illnesses caused by certain types of viruses. However, the cause-effect relationship between the two has not been proven definitively
• Myelin sheaths envelope and insulate nerve fibers throughout the body, and help facilitate nerve signal transmission throughout the body. The signs and symptoms of the disorder are caused when the nerves of the brain and spinal cord become demyelinated (when the myelin sheath is injured or damaged)

Schilder's Disease falls under the category of demyelinating leukodystrophy, a group of neurological disorders.

What are the Signs and Symptoms of Schilder's Disease?

The signs and symptoms of Schilder's Disease may vary between individuals. The onset of the signs and symptoms may be sudden and rapid, or gradual and slow. These may include:

• Hemiparesis: Weakness on one side of the body; muscle weakness and tremors
• Slow movements
• Seizures
• Memory problems; loss of memory
• Speech, visual, and hearing impairment
• Aphasia or communication/language difficulties
• Gradual loss of awareness and responsiveness
• Nausea and vomiting
• Loss of bowel and bladder function (incontinence)

How is Schilder's Disease Diagnosed?

A healthcare professional can diagnose Schilder's Disease by ruling out other diseases through the use of the following tests and procedures:

• Complete evaluation of medical history and family history, along with a thorough physical exam
• Examination of the brain, spinal cord, eyes, and ears
• Vision and hearing test
• Magnetic resonance imaging (MRI) scan of brain
• Electroencephalographic (EEG) studies of the brain
• Nerve function test
• Specialized blood tests to look for specific antibodies, as well as blood tests to rule out other disorders or conditions (with signs and symptoms similar to multiple sclerosis)
• Serum levels of very long chain fatty acids
• Spinal tap: Cerebrospinal fluid is examined for the presence of oligoclonal bands (these are antibodies present in the spinal fluid of individuals with multiple sclerosis). This exam may also be performed to rule out any infections
• In rare cases, a brain biopsy may be performed to rule out conditions with similar signs and symptoms

Once imaging studies have been conducted, all 6 of the following diagnostic criteria, proposed by Poser in 1985, must be met to establish a diagnosis of Schilder's Disease. These include:

• The presence of 2 cm or larger lesions or plaques (1 or 2 in numbers and symmetrical in shape) seen in each brain hemisphere, mostly in the centrum semiovale region of the brain
• Apart from the above, no other lesions are observed
• The peripheral nervous system functions normally and no abnormalities are noted
• The function of the adrenal glands should be normal (established through various tests)
• Serum levels of very long chain fatty acids are within normal limits
• On pathological examination, the changes are in line with either subacute or chronic myelinoclastic diffuse sclerosis

Note: The above information on Poser’s diagnostic criteria is specific for a healthcare provider; a common layperson may find it difficult in interpreting the same.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Schilder's Disease?

Complications of Schilder's Disease may include:

• Depression
• Difficulty swallowing
• Difficulty concentrating
• Frequent pneumonia (lung infection); urinary tract infections
• Side effects from the long-term use of medication
• Chronic steroid therapy resulting in side effects that may include reduced bone density (osteoporosis), ulcer formation, easy bruising, and heart conditions
• Bedridden individuals may develop pressure ulcers
• Severe malnutrition as the condition progresses
• Changes in personality

How is Schilder's Disease Treated?

There is no cure for Schilder's Disease. The treatment of Schilder's Disease can be similar to the established standards for multiple sclerosis. It is aimed at managing the signs and symptoms for as long as possible. The treatment options are determined by healthcare professional, who may use a combination of the following:

• Corticosteroid therapy
• Beta-interferon
• Immunosuppressive therapy
• Symptomatic and supportive treatment that includes physical, occupational, and vocational therapies
• Adequate nutritional support

How can Schilder's Disease be Prevented?

Currently, no effective preventative measures for Schilder's Disease have been identified; further research into the condition is required.

What is the Prognosis of Schilder's Disease? (Outcomes/Resolutions)

• The prognosis for Schilder's Disease depends on the severity of the signs and symptoms. The progression of the condition varies from one individual to another; in some individuals, the condition worsens rapidly, while in others a slower progression may be seen. A waxing and waning of the signs and symptoms may also be observed, in which the condition gets better than worsens. Hence, it is generally difficult to predict the outcome
• Individuals with mild forms of the condition (and slow progression) have a better prognosis than those with severe forms of Schilder's Disease (that progresses rapidly)
• Some individuals are known to respond well to treatment and show an improvement in their condition. However, in general, individuals with Schilder's Disease have a shortened lifespan

Additional and Relevant Useful Information Schilder's Disease:

• Multiple sclerosis (MS) is an autoimmune disorder that affects both the brain and spinal cord (central nervous system)

The following link will help you understand multiple sclerosis:

http://www.dovemed.com/diseases-conditions/multiple-sclerosis-ms/