Mucopolysaccharidosis ii: symptoms, drugs, etc. • hello healthy

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Definition

What is mucopolysaccharidosis II?

Mucopolysaccharidosis II (MPS II) is a rare inherited genetic disorder that causes disorders of carbohydrate metabolism. This condition almost only occurs in men.

MPS II prevents the body from breaking down the special sugars that build bones, skin, tendons and other tissues. This buildup of sugar in the body gradually causes damage to cells and other organs in the body, including the brain. The symptoms that appear can vary from person to person.

Signs & Symptoms

What are the signs and symptoms of mucopolysaccharidosis II?

Symptoms of mucopolysaccharidosis II may include:

• Big, round cheeks
• Bushy nose
• Thick lips with a big tongue
• Bushy eyebrows
• Big head
• Slow growth and development
• Thick, hard skin
• Fingers short, curved; wide hand measure
• Joint problems that make it difficult to move
• Numbness (numbness), muscle weakness, and a tingling sensation in the hands
• Often get cold coughs, sinuses, and sore throat
• Respiratory problems, including sleep apnea
• Hearing loss and ear infection
• Difficulty walking, weak muscles
• Indigestion, including diarrhea
• Heart problems, including heart valve damage
• Swelling of the liver and spleen (hepatosplenomegaly)
• Thickening of the bones

When the brain is affected, symptoms include:

• Learning and thinking difficulties around the age of 2-4 years
• It's hard to speak
• Behavioral disorders, such as restlessness or aggressiveness

If you have any signs or symptoms above or any other questions, please consult your doctor. Everyone's body is different. Always consult a doctor to treat your health condition.

Cause

What causes mucopolysaccharidosis II?

This condition causes the male body to be unable to make certain proteins, because there is a genetic mutation inherited from the mother.

A father who has the genetic mutation that causes MPS II can pass it on to his daughter, but the child will not develop this condition unless he also inherits the same genetic mutation from the mother.

In very, very rare cases (very unlikely), MPS II can appear in children even though the family history is clear of genetic mutations.

Diagnosis & treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

How is mucopolysaccharidosis II diagnosed?

MPS II is a rare condition. To rule out other possibilities and confirm a diagnosis, your doctor will ask you about your symptoms (when they started; what happened; whether they recurred; whether your symptoms get better if you do something, or they get worse) and your family medical history.

If your doctor can't determine another cause for your condition, they'll do a test for MPS II with a urine test to look for specific sugars and missing protein.

If your condition is confirmed to be caused by MPS II, the doctor will advise you to tell other family members.

If you are a pregnant woman and after genetic testing, you know that you carry the genetic mutation that causes MPS II, you can ask your doctor to check if your baby is at risk for this condition. Get a genetic test as early as possible in the early pregnancy.

How is mucopolysaccharidosis II treated?

MPS II can be treated with enzyme replacement therapy (ERT) which uses a drug called larodination (Aldurazyme). This drug is a synthetic version of the protein that is lost in the body with MPS 1. It can relieve most of the symptoms, including helping:

• Walking, climbing stairs, and the ability to move in general and the ability to keep up in general
• Joint movement
• Respiration
• Growth and development
• Hair growth and facial characteristics

However, enzyme therapy does not help with symptoms related to brain function, such as difficulty learning or thinking.

Another treatment option is hematopoietic stem cell grafts. This procedure is performed by implanting healthy stem cells that produce protein, from a donor into the body of the recipient. Usually these cells are obtained from the bone marrow or blood in the umbilical cord. If the graft is done before the child is 2 years old, their learning ability may improve. However, this procedure cannot correct problems with the bones and eyes.

Depending on your symptoms, you may need to work with other specialists, such as heart specialists, ENT, psychologists, neurologists, and ophthalmologists.

Home Remedies

What are some lifestyle changes or home remedies that can be done to treat mucopolysaccharidosis II?

Here are lifestyle and home remedies that can help you deal with mucopolysaccharidosis II:

• Support and encourage your child to be independent, confident, and outgoing. Invite them to move and play like other children.
• Stay positive. Show love and affection. Instill early on that even though your little one may look different, it doesn't mean they are "lacking". Every human being is born different. When other people ask about your child's condition, be honest about what illnesses they have, and what they can't do. Don't forget to mention your child's abilities, hobbies, and personality to help others accept his condition more.
• Encourage the child to stretch or warm up light muscles to keep their joints functioning properly. Talk to your doctor first to find out what a safe movement looks like.
• Create a strategy with a team of doctors and teachers at children's schools to enable children to continue to have learning activities like normal school children. Maybe he needs special needs, such as a private session.
• Avoid sports that require physical contact, such as football, floor exercises, basketball and similar sports to protect a child's neck.
• Make adjustments at home.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.