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MPS VII is a rare genetic disease
MPS VII is a form of mucopolysaccharidosis (MPS), a lysosomal storage disorder. It affects everyone differently and impacts the organs, bones, and other parts of the body.
MPS VII is a rare genetic disease
MPS VII is a form of mucopolysaccharidosis (MPS), a lysosomal storage disorder. It affects everyone differently and impacts the organs, bones, and other parts of the body.
What happens in MPS VII?
People with MPS VII do not have a functional version of an enzyme called β-glucuronidase (GUSB) in their cells that is responsible for breaking down particular glycosaminoglycans (GAGs).
Undegraded GAGs build up in lysosomes in cells. Undegraded GAGs collect in organs, bones, and other parts of the body. If they are not broken down, they can cause progressive multi-organ problems.
Diseased cell
Undegraded GAGs accumulate in cells throughout the body, affecting many systems, including bones, tissues, and organs.
MPS VII is a rare genetic disease
Fewer than 1 in 1,000,000 people have MPS VII.
MPS VII is inherited and in an autosomal recessive manner
Inherited means a gene is passed down from parent to child. In this case, the mutated version of the GUSB gene that causes MPS VII is inherited.
Autosomal recessive describes the way the genes are passed down. In this case, two copies of the abnormal GUSB gene, one from each parent, must be present for a child to be born with MPS VII.
If both parents are carriers of the mutated GUSB gene, there is a 1 in 4 chance each child will be born with MPS VII
Signs and symptoms of MPS VII
The signs and symptoms of MPS VII vary from person to person
There is a wide spectrum of MPS VII symptoms. For some people, symptoms begin early, and for others, they develop progressively later in life.
Common signs and symptoms of MPS VII
MPS VII affects many of the body’s systems. Signs and symptoms may begin prenatally and during early childhood and include the following:
Brain
Developmental delays
Eyes
Clouding, poor vision, sensitivity to light
Ear, nose, and throat
Coarse features, large head, short neck, ear infections, large tongue, hearing loss
Teeth
Small and widely spaced teeth, enlarged gums
Heart
Small or insufficient valves, thickened arteries and valves, heart failure
Breathing
Sleep apnea, obstructed airway, bronchitis, respiratory infections
Stomach, liver, spleen
Diarrhea, reflux, colitis, enlarged liver and spleen
Bones and muscles
Joint pain and stiffness, short stature, knock-knee, curved fingers, limited mobility
It takes a team to manage MPS
Because MPS VII affects multiple organs and systems of the body, treatment requires a coordinated health care team. A patient will have several doctors from different specialty areas, including the following:
General Physician/Pediatrician
General health and medical care
Physiotherapist
Movement and physical function
Otolaryngologist
Ear, nose, and throat
Intensivist
Intensive care
Gastroenterologist
Stomach and intestines
Orthopedist
Skeleton and associated structures
Neurologist
Nervous system, including the brain, spinal cord, and nerves
Pulmonologist
Lungs
Dentist
Teeth, jaws, and mouth
Metabolic physician
Conditions that may have a chemical or biological basis
Rheumatologist
Inflammation or pain in muscles, joints, or tissue
Anesthesiologist
Administers medications during surgeries
Ophthalmologist
Eyes
Cardiologist
Heart
Infusion specialist
Administration of treatment
The geneticist will play a key role in MPS VII diagnosis and care. A geneticist takes the lead in
- Coordinating many aspects of your treatment plan
- Scheduling visits with specialists who monitor different symptoms
General Physician/Pediatrician
General health and medical care
Physiotherapist
Movement and physical function
Otolaryngologist
Ear, nose, and throat
Intensivist
Intensive care
Gastroenterologist
Stomach and intestines
Orthopedist
Skeleton and associated structures
Neurologist
Nervous system, including the brain, spinal cord, and nerves
Pulmonologist
Lungs
Dentist
Teeth, jaws, and mouth
Metabolic physician
Conditions that may have a chemical or biological basis
Rheumatologist
Inflammation or pain in muscles, joints, or tissue
Anesthesiologist
Administers medications during surgeries
Ophthalmologist
Eyes
Cardiologist
Heart
Infusion specialist
Administration of treatment
The geneticist will play a key role in MPS VII diagnosis and care. A geneticist takes the lead in
- Coordinating many aspects of your treatment plan
- Scheduling visits with specialists who monitor different symptoms
You may have many questions
To help plan for doctor visits, here are some sample questions for you to bring to your next appointment:
Diagnosis
- What tests are used to diagnose
MPS VII? - Do the tests hurt?
- Should other family members be tested?
Symptoms and lifestyle
- How can pain from MPS VII be managed?
- Is there a chance of heart problems?
- Do people with MPS VII lose their vision?
- Does MPS VII cause hearing trouble?
- Does it cause breathing problems?
- Are crutches or a wheelchair needed?
- Is a special diet required?
- How often should MPS VII patients have tests performed to monitor their health?
- What are safe ways to stay active?
- What do teachers or school nurses need to know about
MPS VII?
Treatments and surgeries
- What treatment options are available?
- What are the risks and benefits of treatment?
- Which specialists should be involved in treatment decisions, and how often?
- What types of surgeries are most common for people with MPS VII?
- What are the unique surgical risks that exist for people who have MPS VII?
- Have you ever operated on a person with MPS VII before?
- What tests are necessary before surgery?
- What are the risks of surgery?
- What’s important to know about being anesthetized (put under) before surgery?
- What will recovery be like?
MPS VII Resources
Patient advocacy organizations are located throughout the world to support and educate the MPS community
Along with tools and programs for patients, caregivers, and families, these organizations offer opportunities to meet others living with and impacted by MPS.
National MPS Society (United States)
- Memberships for individuals with MPS and their families
- Information and education
- Resources for advocacy and family support
- Pathways Program for newly diagnosed families
- Organized fundraisers and social events
- General clinical study information
MPS Europe is also available to help
- Support access to treatment and care for all MPS patients
- Educate and empower patients and patient representatives
- Provide materials for early diagnosis, clinical management, interventions, and treatment
- Organize and coordinate MPS Day activities and events for raising awareness
- Improve information flow about diagnostics, treatment, clinical studies, and standards of care among MPS societies
- Support national MPS societies in advocating access to medicines
- Represent MPS patients in the European Medicines Agency (EMA) and other European Union (EU) institutions and bodies
- Establish an MPS patient database on a European level
- Organize European and international conferences
- Support establishing MPS societies in developing countries
Other MPS organizations worldwide
Advocacy groups around the world champion awareness of all MPS diseases, including MPS VII. Click on the country’s name below to link to a local advocacy group.
What happens in MPS VII?
People with MPS VII do not have a functional version of an enzyme called β-glucuronidase (GUSB) in their cells that is responsible for breaking down particular glycosaminoglycans (GAGs).
Undegraded GAGs build up in lysosomes in cells. Undegraded GAGs collect in organs, bones, and other parts of the body. If they are not broken down, they can cause progressive multi-organ problems.
Diseased cell
Undegraded GAGs accumulate in cells throughout the body, affecting many systems, including bones, tissues, and organs.
MPS VII is a rare genetic disease
Fewer than 1 in 1,000,000 people have MPS VII.
MPS VII is inherited and in an autosomal recessive manner
Inherited means a gene is passed down from parent to child. In this case, the mutated version of the GUSB gene that causes MPS VII is inherited.
Autosomal recessive describes the way the genes are passed down. In this case, two copies of the abnormal GUSB gene, one from each parent, must be present for a child to be born with MPS VII.
If both parents are carriers of the mutated GUSB gene, there is a 1 in 4 chance each child will be born with MPS VII
Signs and symptoms of MPS VII
The signs and symptoms of MPS VII vary from person to person
There is a wide spectrum of MPS VII symptoms. For some people, symptoms begin early, and for others, they develop progressively later in life.
Common signs and symptoms of MPS VII
MPS VII affects many of the body’s systems. Signs and symptoms may begin prenatally and during early childhood and include the following:
It takes a team to manage MPS
Because MPS VII affects multiple organs and systems of the body, treatment requires a coordinated health care team. A patient will have several doctors from different specialty areas, including the following:
General Physician/Pediatrician
General health and medical care
Physiotherapist
Movement and physical function
Otolaryngologist
Ear, nose, and throat
Intensivist
Intensive care
Gastroenterologist
Stomach and intestines
Orthopedist
Skeleton and associated structures
Neurologist
Nervous system, including the brain, spinal cord, and nerves
Pulmonologist
Lungs
Dentist
Teeth, jaws, and mouth
Metabolic physician
Conditions that may have a chemical or biological basis
Rheumatologist
Inflammation or pain in muscles, joints, or tissue
Anesthesiologist
Administers medications during surgeries
Ophthalmologist
Eyes
Cardiologist
Heart
Infusion specialist
Administration of treatment
The geneticist will play a key role in MPS VII diagnosis and care. A geneticist takes the lead in
- Coordinating many aspects of your treatment plan
- Scheduling visits with specialists who monitor different symptoms
You may have many questions
To help plan for doctor visits, here are some sample questions for you to bring to your next appointment:
Diagnosis
- What tests are used to diagnose
MPS VII? - Do the tests hurt?
- Should other family members be tested?
Symptoms and lifestyle
- How can pain from MPS VII be managed?
- Is there a chance of heart problems?
- Do people with MPS VII lose their vision?
- Does MPS VII cause hearing trouble?
- Does it cause breathing problems?
- Are crutches or a wheelchair needed?
- Is a special diet required?
- How often should MPS VII patients have tests performed to monitor their health?
- What are safe ways to stay active?
- What do teachers or school nurses need to know about
MPS VII?
Treatments and surgeries
- What treatment options are available?
- What are the risks and benefits of treatment?
- Which specialists should be involved in treatment decisions, and how often?
- What types of surgeries are most common for people with MPS VII?
- What are the unique surgical risks that exist for people who have MPS VII?
- Have you ever operated on a person with MPS VII before?
- What tests are necessary before surgery?
- What are the risks of surgery?
- What’s important to know about being anesthetized (put under) before surgery?
- What will recovery be like?
MPS VII Resources
Patient advocacy organizations are located throughout the world to support and educate the MPS community
Along with tools and programs for patients, caregivers, and families, these organizations offer opportunities to meet others living with and impacted by MPS.
National MPS Society (United States)
- Memberships for individuals with MPS and their families
- Information and education
- Resources for advocacy and family support
- Pathways Program for newly diagnosed families
- Organized fundraisers and social events
- General clinical study information
MPS Europe is also available to help
- Support access to treatment and care for all MPS patients
- Educate and empower patients and patient representatives
- Provide materials for early diagnosis, clinical management, interventions, and treatment
- Organize and coordinate MPS Day activities and events for raising awareness
- Improve information flow about diagnostics, treatment, clinical studies, and standards of care among MPS societies
- Support national MPS societies in advocating access to medicines
- Represent MPS patients in the European Medicines Agency (EMA) and other European Union (EU) institutions and bodies
- Establish an MPS patient database on a European level
- Organize European and international conferences
- Support establishing MPS societies in developing countries
Other MPS organizations worldwide
Advocacy groups around the world champion awareness of all MPS diseases,
including MPS VII. Click on the country’s name below to link to a local advocacy group.