MAY IS MPS AWARENESS MONTH:

What are the MPS Diseases? What is MPS II? Get Involved

WHAT ARE THE
MPS DISEASES?

The mucopolysaccharidoses (MPS diseases) are a family of rare, genetic disorders thought to affect around 1 in every 25,000 infants born. There are seven types of MPS disease.

Patients with MPS diseases are missing or do not have high enough levels of an enzyme needed to break down complex sugar molecules known as glycosaminoglycans (GAGs). The specific enzyme involved in this process determines which type of MPS a person has. In all MPS types, without the necessary enzyme, GAGs accumulate in cellular compartments called lysosomes throughout the body. Because of this, MPS diseases come under the umbrella of lysosomal storage disorders (LSDs).

The buildup of GAGs can affect many different organs and body systems over time, leading to a variety of symptoms. For this reason, in many cases it is not apparent from birth that a child is affected by MPS. Instead, due to the progressive nature of MPS diseases, symptoms often first appear during early childhood and worsen over time.

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Learn more and chase the signs of MPS by collecting all the clues in our interactive game:

SIGNS AND
SYMPTOMS OF THE
MPS DISEASES

Learn more about the symptoms of MPS disorders, as well as the challenges faced by patients and their families, in our interview conducted with key experts.

SIGNS AND
SYMPTOMS OF THE
MPS DISORDERS

With MPS symptoms being so broad, many families find themselves chasing the signs of MPS in order to reach a diagnosis.

MPS diseases affect multiple parts of the body and progress at varying rates, making each patient’s experience with MPS unique. The areas of the body that can be affected include the airways, ears, facial features, skeleton and joints, eyes, liver, spleen, heart, and in some cases, the brain.

Because the manifestations of MPS vary so much between patients, the journey to diagnosis can be lengthy and difficult. The rarity of MPS diseases also means that awareness among healthcare providers about MPS is low, and it often takes being able to spot a unique combination of common symptoms for families to find an answer.

Knowing and spreading awareness about the signs and symptoms of MPS can help to improve the recognition, diagnosis, and early management of MPS.

If you suspect Hunter syndrome, please talk to your doctor. For more information on Hunter syndrome (MPS II), visit our main hunterpatients.com site.

#ChaseTheSigns of MPS this MPS Awareness Day, and help every MPS patient and caregiver to be supported and celebrated in the way they deserve.

TYPES OF MPS

There are seven different types of MPS disease. This MPS Awareness Day, we invite you to learn about the unique features of each type.

MPS I

MPS I, ALSO KNOWN AS HURLER, HURLER-SCHEIE, AND SCHEIE SYNDROME

The physical symptoms of MPS I include slow growth, short stature, skeletal problems, coarse facial features, hernias, and enlarged organs

Language may be limited in some patients due to hearing loss and an enlarged tongue

Scheie syndrome is the least severe subtype of MPS I, and has limited neurological symptoms

MPS II

MPS II, ALSO KNOWN AS HUNTER SYNDROME

As the only X-linked recessive MPS disorder, MPS II almost exclusively affects males

Symptoms include skeletal changes, respiratory infections, coarse facial features, hernias, and in severe cases, developmental delays

Symptoms of MPS II usually appear between 2 and 4 years of age

Learn more about
Hunter syndrome

MPS III

MPS III, ALSO KNOWN AS SANFILIPPO SYNDROME

Neurological symptoms are the key markers of this form of MPS disease

Symptoms include progressive dementia, aggression, hyperactivity, and seizures

Progression rates can vary from person to person

MPS IV

MPS IV, ALSO KNOWN AS MORQUIO SYNDROME

There are two subtypes of MPS IV, with clinical features appearing milder in Type B

Purple Age Icon, showing that MPS IV symptoms appear between ages 1-3

Symptoms of MPS IV start to appear between 1 and 3 years of age

Purple Ear Icon, representing possible hearing loss

Symptoms include extreme, progressive skeletal changes, and hearing loss

MPS VI

MPS VI, ALSO KNOWN AS MOROTEAUX-LAMY SYNDROME

Children usually have normal neurological development, but share many of the physical symptoms found in severe MPS I

Progressive skeletal changes limit movement, and growth usually stops at age 8

MPS VII

MPS VII, ALSO KNOWN AS SLY SYNDROME

In its rarest form, children are born with hydrops fetalis, meaning extreme amounts of fluid are retained in the body

In less severe forms, symptoms include mild to moderate intellectual disability, vision loss, and skeletal changes

MPS IX

MPS IX (HYALURONIDASE DEFICIENCY)

MPS IX is the rarest form of MPS disease, with only 4 cases reported worldwide (as of 2011)

Purple Ear Icon signaling ear infections in MPS IX

People may be of short stature and have frequent ear infections

Symptoms include soft-tissue masses around joints, which can cause episodes of painful swelling

Learning about the distinct features of each MPS type can help us to spot the signs as early as possible. It is also important for those not affected by MPS to have a better understanding of patients' experiences with these rare conditions.

This is why MPS Awareness Day is so important, as it serves as a chance for us to acknowledge each and every one of these patients, their caregivers, and families, for all their bravery and for inspiring us to #ChaseTheSigns of MPS.