- What Is It?
- Inheritance Pattern
- Treatment Options
- Daily Life
People with Morquio syndrome typically have shorter lifespans than the general population, but the exact lifespan can be difficult to predict. Some people with Morquio syndrome may live into their 50s or 60s, whereas others may have a shorter lifespan due to complications of the condition, such as respiratory problems or heart issues.
The lifespan of a person with Morquio syndrome can vary depending on the severity of the condition and the effectiveness of treatment. Morquio syndrome is a progressive disorder, meaning the symptoms tend to worsen over time.
People with Morquio syndrome must receive regular medical care to help manage the symptoms and prevent or minimize complications to improve their quality of life.
What is Morquio syndrome?
Morquio syndrome, also known as mucopolysaccharidosis type IV (MPS IV), is a rare inherited disorder. It affects the body's ability to break down and recycle certain complex sugars called mucopolysaccharides, which are involved in building connective tissue, such as cartilage, in the body. When the body cannot break down these sugars properly, they can build up in the cells and tissues, leading to various symptoms.
Morquio syndrome is caused by mutations in the GALNS gene, which is responsible for the production of an enzyme called N-acetylgalactosamine-6-sulfatase. This enzyme is necessary for breaking down certain mucopolysaccharides.
When the enzyme malfunctions (or is absent completely), mucopolysaccharides start building up in the body, which eventually leads to various symptoms.
Morquio syndrome is classified into two types, type A and type B, which are differentiated based on the severity of the enzyme deficiency and the specific mucopolysaccharides that are affected.
People with type A have a more severe enzyme deficiency and tend to have more severe symptoms, whereas those with type B have a less severe deficiency and milder symptoms.
The exact prevalence of MPS IV is unknown, but it is estimated to affect 1 in 200,000 to 300,000 people.
What is the inheritance pattern of Morquio syndrome?
Morquio syndrome is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated GALNS gene (one from each parent) to develop the condition. People who inherit only one mutated copy of the gene are called carriers and do not develop the condition, but they can pass the mutated gene on to their children.
The risk of a child inheriting Morquio syndrome depends on the parents’ genetic status.
- If both parents are carriers of the mutated GALNS gene, there is a one in four (25 percent) chance that their child will inherit two copies of the mutated gene and develop Morquio syndrome.
- There is a two in four (50 percent) chance that the child will inherit one mutated copy of the gene and be a carrier and a one in four (25 percent) chance that the child will inherit no mutated copies of the gene and not be a carrier.
What are the symptoms of Morquio syndrome?
Symptoms of Morquio syndrome typically appear in early childhood and may include:
- Short stature and abnormal growth patterns
- Disproportionate body shape with a larger head, short neck, and shortened ribs
- Skeletal abnormalities
- Joint stiffness and problems with movement
- Heart problems
- Vision problems
- Hearing loss
- Respiratory problems
- Intellectual disability
What are the challenges that adults with Morquio Syndrome face?
Adults with Morquio syndrome may face several challenges related to their physical health, as well as social and psychological well-being.
- Psychological challenges
- Physical challenges
- People with Morquio syndrome typically have short stature, abnormal growth patterns, skeletal abnormalities, and joint stiffness, which can affect their mobility and daily activities.
- They may have vision and hearing problems, respiratory difficulties, and intellectual disabilities.
- These physical challenges can impact a person's ability to participate in activities and may lead to isolation or frustration.
- Social challenges
- Adults with Morquio syndrome may face social challenges due to their physical limitations and the stigma associated with disability.
- They may have difficulty finding and maintaining employment, participating in social activities, and forming and maintaining relationships.
Adults with Morquio syndrome must receive support from their doctors, family, and friends to address these challenges and promote psychological health.
How is Morquio syndrome diagnosed?
Your doctor may note down your complete medical history and family history. You may be subjected to various physical examinations to look for physical features and symptoms common in people with Morquio syndrome, such as short stature, abnormal growth patterns, skeletal abnormalities, and joint stiffness.
Other diagnostic modalities for Morquio syndrome include:
- Laboratory testing
- Blood and urine tests can measure the levels of mucopolysaccharides and enzymes involved in their breakdown.
- Elevated levels of mucopolysaccharides in the blood and urine can be a sign of Morquio syndrome.
- Genetic testing
- Genetic testing can confirm Morquio syndrome's diagnosis by identifying mutations in the GALNS gene.
- This enzyme is necessary for breaking down certain mucopolysaccharides.
- Imaging studies
It is crucial to note that the diagnosis of Morquio syndrome may be challenging as the symptoms can be similar to those of other conditions.
What are the treatment options for Morquio syndrome?
There is no cure for Morquio syndrome, but treatment can help manage the symptoms and improve quality of life. Treatment may include medications to help with joint stiffness, physical therapy, and surgery to correct spinal abnormalities.
- Some people with Morquio syndrome may also benefit from enzyme replacement therapy, which involves receiving regular infusions of the enzyme lacking in their body.
- Enzyme replacement therapy has been shown to improve mobility and reduce the risk of respiratory problems in people with Morquio syndrome.
What is it like living with Morquio syndrome?
Living with Morquio syndrome can be challenging due to the various physical and intellectual difficulties that can arise. Their physical stature and skeletal abnormalities can affect their mobility and daily activities. Additionally, they may have vision and hearing problems, respiratory difficulties, and intellectual disabilities.
As treatment for Morquio syndrome can help manage the symptoms and improve quality of life, it may involve frequent medical appointments, such as regular checkups with your doctor, visits to specialists, and hospital stays for treatment or surgery.
People with Morquio syndrome may require assistance with daily activities, such as bathing, dressing, and mobility. Support from family, friends, and healthcare professionals can be important for people living with Morquio syndrome.
In addition, support groups and online communities can provide a sense of connection and resources for people with Morquio syndrome and their families.
Morquio Syndrome: https://www.childrenshospital.org/conditions/morquio-syndrome#:~:text=Morquio%20syndrome%20is%20a%20rare,naturally%20produced%20in%20the%20body.
Morquio Syndrome: https://kidshealth.org/en/parents/morquio-syndrome.html
Mucopolysaccharidosis IV: https://rarediseases.org/rare-diseases/morquio-syndrome/
Mucopolysaccharidosis type IV: https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-iv/#frequency
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