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What is San Filippo?

Sanfilippo (san-fuh-LEE-po) syndrome is a rare genetic metabolism disorder. A change in a single gene makes a child's body unable to break down certain carbohydrates (sugars). This leads to serious problems in the brain and nervous system. There is no cure yet for Sanfilippo syndrome.

kidshealth.org - Sanfilippo Syndrome (for Parents) - Nemours KidsHealth

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What Is Sanfilippo Syndrome?

What Causes Sanfilippo Syndrome?

The body makes long chains of sugar molecules called glycosaminoglycans (GAGs), also called mucopolysaccharides. They:

help build cartilage, connective tissue, nerve tissue, and skin

help blood clot

are used in the communication between cells

The body continually builds GAGs and, when their job is done, breaks them down through metabolism. One type of sugar molecule is called heparan sulfate. A child born with Sanfilippo

syndrome

has a defect in one of the genes that make enzymes needed to break down heparan sulfate. Without the gene, the used heparan sulfate builds up in the cells and keeps them from working as they should. This can damage organs, affecting growth, mental development, and behavior. Four enzymes are involved in breaking down heparan sulfate, so there are four types of Sanfilippo syndrome (A, B, C, and D), depending on which enzyme is affected. Type A is the most common and most severe form. A family history increases the risk for Sanfilippo syndrome, which affects about 1 in 70,000 births. The condition is also called mucopolysaccharidosis type III (MPS III).

What Are the Signs & Symptoms of Sanfilippo Syndrome?

Kids who have the condition are born with it. But most won't have symptoms until the preschool years, when they're between 2 and 6 years old. Then, they start to show developmental delays and behavioral issues. Trouble with sleep is common.

Early signs of Sanfilippo syndrome include:

speech and other developmental delays

getting many ear infections or sinus infections

large head size

respiratory infections

ongoing diarrhea

headaches

sleep problems

behavior issues that can look like those caused by autism

compulsive behaviors and hyperactivity

They get worse over time, leading to:

seizures

severe cognitive problems

progressive loss of motor skills (walking, speaking, feeding, etc.)

Sanfilippo syndrome affects life expectancy. Most children reach their teenage years, and some can live longer.

How Is Sanfilippo Syndrome Diagnosed?

It can take time for a child to be diagnosed with Sanfilippo syndrome. Doctors might suspect it when a child has:

significant behavioral problems

speech or developmental delays that get worse over time

A urine test to check for high levels GAGs in a child's pee can help confirm a diagnosis.

How Is Sanfilippo Syndrome Treated?

There is no cure yet for Sanfilippo syndrome. Treatment focuses on easing symptoms and giving a child the best quality of life for as long as possible. But some tests and clinical trials (for instance, with enzyme replacement therapy and gene therapy ) have many doctors believing that help could be on the way.

What Else Should I Know?

You can find support and information about Sanfilippo research online at:

Turn to your child's care team if you have questions. They're there to support your child and the whole family.

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What are the 3 main diseases that affect the muscles?

Types of neuromuscular disorders include: Amyotrophic lateral sclerosis (ALS) Charcot-Marie-Tooth disease. Multiple sclerosis.

cedars-sinai.org - Neuromuscular Disorders | Cedars-Sinai

Neuromuscular disorders affect the nerves that control voluntary muscles and the nerves that communicate sensory information back to the brain. Nerve cells (neurons) send and receive electrical messages to and from the body to help control voluntary muscles. When the neurons become unhealthy or die, communication between the nervous system and muscles breaks down. As a result, muscles weaken and waste away (atrophy).

Symptoms

There are many neuromuscular disorders, and treatment by an experienced multidisciplinary team, such as the one at Cedars-Sinai's Neuromuscular Disorders Program, is vital. These disorders result in muscle weakness and fatigue that progress over time. Some neuromuscular disorders have symptoms that begin in infancy, while others may appear in childhood or even adulthood. Symptoms will depend on the type of neuromuscular disorder and the areas of the body that are affected.

Some symptoms common to neuromuscular disorders include:

Muscle weakness that can lead to twitching, cramps, aches and pains

Muscle loss

Movement issues

Balance problems

Numbness, tingling or painful sensations

Droopy eyelids

Double vision

Trouble swallowing

Trouble breathing

Types of neuromuscular disorders include:

Neuromuscular disorders can be inherited or caused by a spontaneous gene mutation; some also may be caused by immune system disorders.

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