Alpha-mannosidosis

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Will my child with Alpha-mannosidosis go through puberty at the same time as their peers?

Teenagers with Alpha-mannosidosis are not known to have any health problems that cause differences in stages of puberty as of June 14, 2016.

References
  • http://www.ojrd.com/content/3/1/21
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
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Why is carpal tunnel syndrome common in people with Alpha-mannosidosis?

Where can I find pictures of other people with Alpha-mannosidosis?

How long do people with Alpha-mannosidosis usually live?

Do people with Alpha-mannosidosis have normal intelligence?

How many people around the world have Alpha-mannosidosis?

Are there special modifications I need to make to my house for my child with Alpha-mannosidosis?

Are there school specific accommodations my child with Alpha-mannosidosis may need?

Does everyone with Alpha-mannosidosis have skeletal problems?

Does everyone with Alpha-mannosidosis have hydrocephalus?

Does everyone with Alpha-mannosidosis have a large liver or spleen?

Does everyone with Alpha-mannosidosis have hearing loss?

Does everyone with Alpha-mannosidosis have eye problems?

Does everyone with Alpha-mannosidosis have growth problems?

Can people with Alpha-mannosidosis use growth hormone?

Can people with Alpha-mannosidosis have children?

How do I know if I could have a child with Alpha-mannosidosis?

I am currently pregnant; can I find out if my child has Alpha-mannosidosis before they are born?

How can I educate my doctor about Alpha-mannosidosis?

How can I find a doctor near me that has experience treating people with Alpha-mannosidosis?

How old would a person be when they start showing signs of Alpha-mannosidosis?

How can a stem cell transplant help with the symptoms of Alpha-mannosidosis?

My partner and I are carriers of Alpha-mannosidosis and already have a child with this condition. What is the chance that we would have another child with this condition?

Will my child with Alpha-mannosidosis be able to live independently?

Do people with Alpha-mannosidosis that have a hematopoietic stem cell transplant (HSCT) live longer than those that don’t?

What sort of management for skeletal problems is available for people with Alpha-mannosidosis?

What sort of management for hydrocephalus is available for people with Alpha-mannosidosis?

What sort of management for eye problems is available for people with Alpha-mannosidosis?

Are there other eye problems besides corneal opacities that people with Alpha-mannosidosis can have?

What sort of management for hearing problems is available for people with Alpha-mannosidosis?

What are some of the specific skeletal problems that people with Alpha-mannosidosis can have?

What are some of the Ear-Nose-and Throat problems that people with Alpha-mannosidosis can have?

What management is available for the Ear-Nose-and Throat problems that people with Alpha-mannosidosis can have?

How can an amniocentesis tell me if my baby has Alpha-mannosidosis?

How can a chorionic villus sampling (CVS) tell me if my baby has Alpha-mannosidosis?

If my baby has Alpha-mannosidosis, will this condition cause any problems for him or her before birth?

Does having an enlarged liver or spleen cause problems for people with Alpha-mannosidosis?

Are there any surgeries that could be helpful for people with Alpha-mannosidosis?

I am a carrier of Alpha-mannosidosis. How do I find out if my children could be at risk to have Alpha-mannosidosis?

I am a carrier of Alpha-mannosidosis. Could my children have a child with Alpha-mannosidosis?

Are there certain jobs people with Alpha-mannosidosis should avoid?

Are there certain sports or other activities people with Alpha-mannosidosis should avoid?

How much does having a hematopoietic stem cell transplant (HSCT) cost for individuals with Alpha-Mannosidosis?

Is there enzyme replacement therapy (ERT) available for people with Alpha-mannosidosis?

What is gene therapy and how does this relate to Alpha-mannosidosis?

Is gene therapy available for people with Alpha-mannosidosis?

Can a bone marrow transplant help with the symptoms of Alpha-mannosidosis?

Are problems during pregnancy common for people with Alpha-mannosidosis?

If two people with Alpha-mannosidosis have a child, will their child also have Alpha-mannosidosis?

If more than one person in the same family has Alpha-mannosidosis, will they all have similar symptoms?

Is Alpha-mannosidosis found in other animals or just in humans?

Does the type of genetic changes a person has in the MAN2B1 gene impact the type of symptoms they may have associated with Alpha-mannosidosis?

How much alpha-mannosidase enzyme activity is considered to be normal?

My doctor says I have “dysostosis multiplex”; what does that mean in relation to my Alpha-mannosidosis?

Are there other conditions where people may have low levels of alpha-mannosidase besides Alpha-mannosidosis?

Can measuring alpha-mannosidase enzyme activity help determine if someone is a carrier of Alpha-mannosidosis?

Can occupational therapy help the symptoms of Alpha-mannosidosis?

Can physical therapy help the symptoms of Alpha-mannosidosis?

Can speech therapy help the symptoms of Alpha-mannosidosis?

Is there a specific diet that people with Alpha-mannosidosis should follow?

What types of special services can be useful to help the learning of people with Alpha-mannosidosis?

What can I do if my child with Alpha-mannosidosis has behavioral problems or signs of depression?

Does everyone with Alpha-mannosidosis have psychiatric problems?

How can hydrotherapy help the symptoms of Alpha-mannosidosis?

Where can caregivers of people with Alpha-mannosidosis get support?

Are infections something that is common in people with Alpha-mannosidosis?

Why is carpal tunnel syndrome common in people with Alpha-mannosidosis?

Due to the buildup of complex sugars, or oligosaccharides, in the body of people with Alpha-mannosidosis, thickening of the ligaments in the body puts pressure on various nerves. This pressure on the nerves in the hands can cause nerve damage and pain in the wrist called carpal tunnel syndrome.

Where can I find pictures of other people with Alpha-mannosidosis?

Pictures of people with Alpha-mannosidosis can be often be found via support and information materials. To see a few examples of these materials please visit http://www.ismrd.org/glycoprotein_diseases/alpha_mannosidosis or http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf.

How long do people with Alpha-mannosidosis usually live?

There are three different forms of Alpha-mannosidosis. Alpha-mannosidosis type 1 is a mild form of the condition where people usually show signs after 10 years of age with a slow progression of the disease. Alpha-mannosidosis type 2 is a moderate form of the condition where people usually show signs before age 10 with a slow progression of disease. Alpha-mannosidosis type 3 is the most severe form of the condition. People with Alpha-mannosidosis type 3 usually die before birth or at a young age because of significant and progressive problems with the brain and other parts of the nervous system. People with type 1 or 2 Alpha-mannosidosis can have a reasonably normal lifespan with good medical care depending on the severity of their medical problems from the condition. Many adults with Alpha-mannosidosis type 1 or type 2 are over 50 years of age. As lifespan and the severity of disease can vary from person to person, people can ask their physician for more personalized information.

Do people with Alpha-mannosidosis have normal intelligence?

People with Alpha-mannosidosis can have a buildup of complex sugars, called oligosaccharides, in different parts of the body, including the brain. As a result of this buildup, everyone with alpha-mannosidosis will have some degree of intellectual disability. There is a range, or spectrum, of intellectual disability in people with this condition depending on how severely they are affected. People with Alpha-mannosidosis type 1 and type 2 usually have mild to moderate intellectual disability. The first signs of delays in people with Alpha-mannosidosis are usually speech and motor delays, but development may vary in different people with this condition. In order to learn more about Alpha-mannosidosis and intellectual disability, it may be helpful for people to speak with a developmental specialist or ask their physician for a referral to a specialist.

How many people around the world have Alpha-mannosidosis?

It is estimated that about 1 in every 500,000 people have Alpha-mannosidosis.

Are there special modifications I need to make to my house for my child with Alpha-mannosidosis?

The need to make modifications to the home of a person with Alpha-mannosidosis is different from person to person with this condition. Some people with Alpha-mannosidosis may be in wheelchairs and need specific home modifications related to this mobility restriction. People may wish to discuss special needs or home modifications with their child's physician or request that they be referred to a specialist.

Are there school specific accommodations my child with Alpha-mannosidosis may need?

Children with Alpha-mannosidosis may need specific and individualized resources in school, particularly related to their learning difficulties and intellectual disabilities. These may include special education, physically accessible modifications (depending on the person's mobility), the use of sign language for hearing impaired students, or individual assistance for their school needs. It is important that your school and their staff know about your child's needs so that they can make sure resources are made available..

Does everyone with Alpha-mannosidosis have skeletal problems?

Alpha-mannosidosis is a condition that affects different people differently. However, almost everyone with Alpha-mannosidosis has some skeletal problems that affects the way that their bones form. The most common skeletal problems that people with Alpha-mannosidosis have are abnormally shaped back bones (vertebrae), thickened bones at the top of the skull, reduced bone density (osteopenia), bowed legs, and knock-knee abnormalities.

Does everyone with Alpha-mannosidosis have hydrocephalus?

Hydrocephalus is something that can happen when the fluid in the brain and the spinal cord becomes blocked and causes increased pressure on the head. Hydrocephalus can occur in some people with Alpha-mannosidosis. This is something that can occur in people with Alpha-mannosidosis at any age, but this is not something that all people with Alpha-mannosidosis will have. There are scans, called CT scans, that can look at the fluid in the brain to see if a person with Alpha-mannosidosis has hydrocephalus.

Does everyone with Alpha-mannosidosis have a large liver or spleen?

Alpha-mannosidosis is caused by changes in the MAN2B1 gene which results in a buildup of complex sugars, called oligosaccharides. Most people with Alpha-mannosidosis have an enlarged liver and spleen because of the buildup oligosaccharides. Having an enlarged liver and spleen is called hepatosplenomegaly. Even though most people with Alpha-mannosidosis will have an enlarged liver and spleen (hepatosplenomegaly), there may be some people with this condition who do not have this medical issue.

Does everyone with Alpha-mannosidosis have hearing loss?

Moderate to severe hearing loss is common in people with Alpha-mannosidosis, but there may be people with this condition who do not have hearing loss. This is because different people with Alpha-mannosidosis may have different symptoms of this condition. In order to learn more about hearing loss and evaluations for hearing loss, contact an audiologist or request a referral to a hearing specialist from your physician.

Does everyone with Alpha-mannosidosis have eye problems?

Eye problems that cause vision loss are common for people with Alpha-mannosidosis, but there are some people with this condition who will not have vision loss. The most common eye problems in Alpha-mannosidosis are scarring of the corneas, called opacities and cataracts. These eye problems can cause problems with vision. Vision loss is usually not severe in people with Alpha-mannosidosis, but vision can be somewhat impaired from these eye problems. Many vision problems in people with Alpha-mannosidosis can be treated or managed. To learn more about these vision concerns and treatments, it may be useful to speak with a vision specialist, or ophthalmologist.

Does everyone with Alpha-mannosidosis have growth problems?

When people with Alpha-mannosidosis are born, they may be larger than other children their age or growth faster than other children in the first few years of life. However, as people with Alpha-mannosidosis get older, they may have growth restriction, or not grow as much as others. A person with Alpha-mannosidosis will have their growth checked at every visit with their physician. The physician will monitor for delayed or abnormal growth. If you have a concern about abnormal growth, ask you or your child's physician to discuss growth progress .

Can people with Alpha-mannosidosis use growth hormone?

As of May 2019 there are no clinical trials or published research articles describing the use of growth hormone for people with Alpha-mannosidosis. Growth hormone is usually not part of the standard management for people with Alpha-mannosidosis, but talk with your doctor if this is something you would like more information about.

Can people with Alpha-mannosidosis have children?

Alpha-mannosidosis does not affect a person's ability to get pregnant or have a child. However, since people with Alpha-mannosidosis may have severe medical problems, and all have some degree of intellectual disability, it is not very common for people with Alpha-mannosidosis to have children of their own.

How do I know if I could have a child with Alpha-mannosidosis?

People with Alpha-mannosidosis usually get their two genetic changes in the MAN2B1 gene that causes this condition from their parents. One of these genetic changes comes from each of their parents and this makes their parents "carriers" of Alpha-mannosidosis. Carriers of a condition usually don't have medical problems, but can have a child with the condition that they are a carrier of. To find out if you are a carrier, you can talk to a doctor or a genetic counselor about carrier testing for Alpha-mannosidosis and other genetic conditions. If you are found to be a carrier of Alpha-mannosidosis, you have a 25% chance (1 in 4) to have a child with Alpha-mannosidosis if your partner is also a carrier of Alpha-mannosidosis. Genetic counselors can be found on the National Society of Genetic Counselors website.

I am currently pregnant; can I find out if my child has Alpha-mannosidosis before they are born?

If you are concerned about having a baby with Alpha-mannosidosis, there are certain procedures a person can have during or before their pregnancy to find out if their baby has Alpha-mannosidosis. Some of these include vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD), chorionic villus sampling (CVS), or an amniocentesis. In general, genetic testing is only available during a pregnancy when the genetic changes have already been found in the family. A medical geneticist or a genetic counselor can help talk to you about these options and what information may be needed before you can have a procedure like one of these. Genetic counselors can be found on the National Society of Genetic Counselors website.

How can I educate my doctor about Alpha-mannosidosis?

You can provide your doctor with education materials such as the information booklets on Alpha-mannosidosis found at http://www.ojrd.com/content/3/1/21, http://rarediseases.org/rare-diseases/alpha-mannosidosis/, or http://www.ncbi.nlm.nih.gov/books/NBK1396/. If you would like to see or speak to a professional who has experience with Alpha-mannosidosis, ask your doctor to help you locate an expert.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ojrd.com/content/3/1/21
  • http://rarediseases.org/rare-diseases/alpha-mannosidosis/
How can I find a doctor near me that has experience treating people with Alpha-mannosidosis?

To find a doctor or center that specializes in metabolic genetic conditions or lysosomal storage disorders like Alpha-mannosidosis in the United States, you can access the list of centers compiled by the National Mucopolysaccharidosis Society by visiting http://mpssociety.org/treatments/resources/ and clicking the “MPS Genetic Centers” Link to download the corresponding Excel file. Another option to access this file is to go directly to http://mpssociety.org/wp-content/uploads/2016/03/Tertiary-Care-Centers.xlsx. Even though this list is on a website focused on Mucopolysaccharidoses, these doctors often specialize in many different types of lysosomal storage diseases, including Alpha-mannosidosis.

References
  • http://mpssociety.org/treatments/resources/
  • http://mpssociety.org/wp-content/uploads/2016/03/Tertiary-Care-Centers.xlsx
How old would a person be when they start showing signs of Alpha-mannosidosis?

There are three different forms of Alpha-mannosidosis. Alpha-mannosidosis type 1 is a mild form of the condition where people usually show signs after 10 years of age. Alpha-mannosidosis type 2 is a moderate form of the condition where people usually show signs before age 10. Alpha-mannosidosis type 3 is the most severe form of the condition where people usually die before birth or at a very young age. Because different people with Alpha-mannosidosis have differences in the severity of their disease, it is difficult to know exactly at which point of early childhood a person may start showing signs of this condition if they have Alpha-mannosidosis type 1 or type 2.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://rarediseases.org/rare-diseases/alpha-mannosidosis/
  • http://www.ojrd.com/content/3/1/21
How can a stem cell transplant help with the symptoms of Alpha-mannosidosis?

A hematopoietic stem cell transplant, or HSCT, replaces the missing alpha-mannosidase enzyme in people with Alpha-mannosidosis. This can improve some of the symptoms of the Alpha-mannosidosis like a large liver and spleen, frequency of infections, and hearing loss. A HSCT does not usually improve the problems with the bones, problems with the eyes, or the problems with mental development and the brain. Since Alpha-mannosidosis is a progressive condition, having a HSCT is considered to be most beneficial early on in life. HSCT is not done routinely and is a risky procedure. There are some reports of people with Alpha-mannosidosis having successful HCST and other reports of people with this condition not having a successful HCST. HCST has significant risks to the person undergoing the procedure. The risks and benefits of HSCT should be discussed with your doctor.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://www.ojrd.com/content/3/1/21
My partner and I are carriers of Alpha-mannosidosis and already have a child with this condition. What is the chance that we would have another child with this condition?

If you and your partner are both carriers of Alpha-mannosidosis, there is a 25% (1 in 4) chance for each of your children to be affected with Alpha-mannosidosis. If you would like to have a more in depth discussion about inheritance, it may be helpful for you to speak with a genetic counselor. Genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • http://www.omim.org/entry/248500
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
Will my child with Alpha-mannosidosis be able to live independently?

Some people with Alpha-mannosidosis have medical problems that can prevent them from living independently. However, Alpha-mannosidosis is a variable disease and there may be some people who can live somewhat independently without help from others. Mental capacity based on the severity of disease is another factor that plays a big role in whether or not a person with Alpha-mannosidosis may be able to live on their own.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://rarediseases.org/rare-diseases/alpha-mannosidosis/
Do people with Alpha-mannosidosis that have a hematopoietic stem cell transplant (HSCT) live longer than those that don’t?

A hematopoietic stem cell transplant (HSCT) can improve the levels of alpha-mannosidase in the body to treat some of the symptoms of Alpha-mannosidosis. A HSCT does not usually improve the problems with the bones, problems with the eyes, or the problems that people with Alpha-mannosidosis can have with their mental development and the brain. While a HCST can improve some of the medical problems and quality of life issues for people with Alpha-mannosidosis, a HCST has significant risks to the person undergoing the procedure, including the possibility of death. For this reason, it is difficult to say whether or not having an HSCT would extend the lifespan of a person with Alpha-mannosidosis. This is complicated more by the fact that different people with Alpha-mannosidosis have different severities of symptoms. As of June 14, 2016, there is no research about the effect of HSCT on lifespan in people with this condition. The risks and benefits of HSCT should be discussed with your doctor.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ojrd.com/content/3/1/21
What sort of management for skeletal problems is available for people with Alpha-mannosidosis?

Physical therapy including hydrotherapy can be used to decrease the strain on the joints of people with Alpha-mannosidosis. Anti-inflammatory medications like ibuprofen can also be used to reduce some of the joint pain that people with Alpha-mannosidosis may have. There are certain orthopedic surgeries that can be done to correct other skeletal problems, like knock knees, if necessary. Other interventions like special shoes for support or the use of a wheelchair can be considered. If a person with Alpha-mannosidosis has osteopenia or osteoporosis found on imaging, the use of certain medications like palmidronate or zoledronic acid may be helpful. Talking with an orthopedic doctor or a physical therapist may be helpful in figuring out what management is best for you or your child with Alpha-mannosidosis.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://rarediseases.org/rare-diseases/alpha-mannosidosis/
  • http://www.ojrd.com/content/3/1/21
What sort of management for hydrocephalus is available for people with Alpha-mannosidosis?

Hydrocephalus, or a blockage in fluid in the brain that causes pressure, can happen in people with Alpha-mannosidosis at any age. If a person has symptoms of hydrocephalus like headaches or nausea and vomiting, an imaging scan called a CT scan can be done to look at the fluid in the brain. If this scan shows that someone with Alpha-Mannosidosis has hydrocephalus, a thin tube called a shunt can be inserted so that it drains the blocked fluid from the brain. To learn more, you can talk to your doctor about the signs and symptoms of hydrocephalus and what to do should you see symptoms.

References
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
What sort of management for eye problems is available for people with Alpha-mannosidosis?

People with Alpha-mannosidosis should have an eye doctor called an ophthalmologist who can check them regularly for vision and other eye problems. Corrective lenses can also help some of the vision problems associated with this condition. Medication or corneal transplants may help improve vision in people who have scarring of their corneas, or opacities, that can cause vision loss. If a person with Alpha-mannosidosis has a cataract that is causing visual impairment, this may also be surgically removed. Most eye problems do not cause severe vision loss for people with Alpha-mannosidosis but this can vary from person to person with this condition.

References
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
Are there other eye problems besides corneal opacities that people with Alpha-mannosidosis can have?

In addition to corneal opacities, some people with Alpha-mannosidosis can have cataracts. People with this condition that have had a corneal transplant can also have an astigmatism after the surgery. These eye problems are not usually associated with severe vision loss, but this can vary between different people with Alpha-mannosidosis. Vision management and care is usually tailored to each person depending on their symptoms. If you have additional questions about vision treatments and management for Alpha-mannosidosis, consider speaking to an ophthalmologist about how to best manage your or your child's care.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
What sort of management for hearing problems is available for people with Alpha-mannosidosis?

Some of the hearing problems associated with Alpha-mannosidosis are made worse by frequent ear infections. There are medications people can take early to prevent and treat these types of infections. For people with Alpha-mannosidosis that have conductive hearing loss, there are a few types of ear tubes that can be inserted surgically to remove fluid and improve hearing. For people with this condition that have sensorineural, or nerve, hearing loss, hearing aids can be used to improve hearing.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
What are some of the specific skeletal problems that people with Alpha-mannosidosis can have?

People with Alpha-mannosidosis can have abnormally shaped back bones, or vertebrae, that can cause a curve in the spine. They can also have thickened bones at the top of the skull. People with Alpha-Mannosidosis can also have reduced bone density (osteopenia) or weakened bones (osteoporosis). Some people with Alpha-mannosidosis have bowed legs and others have knock knee abnormalities, also called genu valgum.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ojrd.com/content/3/1/21
What are some of the Ear-Nose-and Throat problems that people with Alpha-mannosidosis can have?

People with Alpha-mannosidosis can have ear problems including frequent ear infections and hearing loss. People with this condition can also have frequent coughs, colds, and other throat infections. The tonsils, or the adenoids, can become enlarged in people with Alpha-mannosidosis. Enlargement of the tonsils plus the buildup of storage material in the airway can cause problems with breathing.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
What management is available for the Ear-Nose-and Throat problems that people with Alpha-mannosidosis can have?

People with Alpha-mannosidosis can have ear problems including frequent ear infections and hearing loss. Medications can be given to treat ear infections and hearing aids or the insertion of ear tubes may help with some hearing loss depending on the cause. People with Alpha-mannosidosis can also have frequent coughs, colds, and other throat infections. Vaccinations to prevent the flu and other respiratory infections can help avoid these problems. If breathing is made difficult by enlarged tonsils or adenoids, these can be surgically removed. As different people can have varying severity of disease, people with Alpha-mannosidosis may have varying symptoms.

References
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://www.ojrd.com/content/3/1/21
How can an amniocentesis tell me if my baby has Alpha-mannosidosis?

An amniocentesis is a procedure during pregnancy where some of the amniotic fluid is removed from around the baby and is tested. This fluid can be tested for alpha-mannosidase enzyme levels to see if the baby has a problem with their enzyme levels and, therefore, could have Alpha-mannosidosis. If there are known genetic changes for Alpha-mannosidosis in the family, genetic testing could also be done on the amniotic fluid to see if the baby has two changes for Alpha-mannosidosis, meaning that they have this condition. Talk to a doctor or a genetic counselor about the possibility of this testing if it is something you are interested in learning more about. Genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ojrd.com/content/3/1/21
How can a chorionic villus sampling (CVS) tell me if my baby has Alpha-mannosidosis?

A chorionic villus sampling, or CVS, is a procedure during pregnancy where some of the finger-like pieces, or villi, of the placenta are removed and tested. If there are known genetic changes for Alpha-mannosidosis in the family, genetic testing could be done on these villi to see if the baby has two changes for Alpha-mannosidosis, meaning that they have this condition. Talk to a doctor or a genetic counselor about the possibility of this testing if it is something you are interested in learning more about.

References
  • https://rhttp://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ojrd.com/content/3/1/21
If my baby has Alpha-mannosidosis, will this condition cause any problems for him or her before birth?

Alpha-mannosidosis affects different people differently and not all children with Alpha-mannosidosis will show signs of the condition before birth. There are 3 different types of Alpha-mannosidosis. Alpha-mannosidosis types 1 and 2 do not usually cause medical problems for the affected person before birth. In the case of people who have Alpha-mannosidosis type 3, the most severe type of the condition, skeletal abnormalities, muscle weakness, and problems with the brain and nervous system can be present before or shortly after birth. This is the main reason why people with Alpha-mannosidosis Type 3 can pass away before birth or shortly after birth.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ojrd.com/content/3/1/21
Does having an enlarged liver or spleen cause problems for people with Alpha-mannosidosis?

Many people with Alpha-mannosidosis have an enlarged liver or spleen because of the build up of complex sugars, called oligosaccharides. Having an enlarged liver or spleen usually does not cause medical problems, but can sometimes cause issues with eating or breathing. People with an enlarged spleen may be encouraged to avoid contact sports or other activities where their spleen could be injured.

References
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://www.ojrd.com/content/3/1/21
Are there any surgeries that could be helpful for people with Alpha-mannosidosis?

Depending on the severity of symptoms of their condition, a doctor may recommend certain surgeries to a person with Alpha-mannosidosis. Some people with Alpha-mannosidosis have surgeries to treat some of their skeletal problems, to remove the tonsils or adenoids in the throat, to insert a tube (shunt) to remove the blockage of fluid around the brain and spinal cord, and for other reasons. Each surgery a person with Alpha-mannosidosis has should be discussed with a doctor who is knowledgeable about their condition before they have the procedure.

References
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
I am a carrier of Alpha-mannosidosis. How do I find out if my children could be at risk to have Alpha-mannosidosis?

If you are a carrier of Alpha-mannosidosis, your future children will each have a 25% (1 in 4) chance to have Alpha-mannosidosis if your partner is also a carrier of the condition. Your partner can have testing to determine if they are a carrier of Alpha-mannosidosis and, therefore, if any children you have together could have this condition.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.omim.org/entry/248500
I am a carrier of Alpha-mannosidosis. Could my children have a child with Alpha-mannosidosis?

If you are a carrier of Alpha-mannosidosis and your partner is not, your children would each have a 50% (1 in 2) chance to be a carrier of this condition just like you. If one of your children is a carrier and their partner is also a carrier, each of their children will have a 25% (1 in 4) chance to have Alpha-mannosidosis.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.omim.org/entry/248500
Are there certain jobs people with Alpha-mannosidosis should avoid?

Some people with Alpha-mannosidosis have medical problems that may prevent them from being able to work. However, Alpha-mannosidosis is a variable disease and there are some people with this condition that can work depending on their physical and mental capabilities. The Americans with Disabilities Act gives assistance to employers and employees so that people with Alpha-mannosidosis can be successful in their work despite physical or intellectual disabilities. If you are interested in learning about work opportunities for yourself or your child with Alpha-mannosidosis, it may be helpful to discuss options with a social worker.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://rarediseases.org/rare-diseases/alpha-mannosidosis/
Are there certain sports or other activities people with Alpha-mannosidosis should avoid?

The physical restrictions of people with Alpha-mannosidosis are unique to each person’s symptoms and severity of disease. People with Alpha-mannosidosis should avoid physical activities that cause them pain. Some people with an enlarged spleen or other medical complications may be encouraged to avoid contact sports.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://rarediseases.org/rare-diseases/alpha-mannosidosis/
How much does having a hematopoietic stem cell transplant (HSCT) cost for individuals with Alpha-Mannosidosis?

The average cost of a hematopoietic stem cell transplant (HSCT) is between $100,000 and $250,000 in the United States, but some HSCTs have been known to cost as little as $85,000. This is the estimated cost if a person did not have insurance, but depending on the health insurance plan that a person with Alpha-mannosidosis has, the cost may be much less. To learn more about the cost of this procedure, call your insurance company to discuss coverage and cost.

References
  • http://www.ncbi.nlm.nih.gov/pubmed/26687803
  • http://www.ncbi.nlm.nih.gov/pubmed/26524106
Is there enzyme replacement therapy (ERT) available for people with Alpha-mannosidosis?

As of May 2019, enzyme replacement therapy (ERT) is not universally clinically available for people with Alpha-mannosidosis in the United States. However, this type of treatment method has been used in clinical trials in the United States and Europe in some patients.

In January 2018, the European Medicines Agency (EMA) granted a marketing authorization under exceptional circumstances in the European Union for Lamzede (velmanase alfa, Chiesi Farmaceutici S.p.A.) to treat alpha-mannosidosis. Lamzede is a long-term intravenous enzyme replacement therapy for adults, adolescents, and children with mild to moderate forms of alpha-mannosidosis. The applicant still needs to complete an open label study to further study Lamzede's effectiveness in patients under six years of age, and to evaluate long-term effectiveness and safety of the treatment (details available from http://www.ema.europa.eu/docs/en_GB/document_library/Press_release/2018/01/WC500242401.pdf).

References
  • https://clinicaltrials.gov/ct2/results?term=lamazym&Search=Search
  • https://clinicaltrials.gov/ct2/results?term=alpha+mannosidosis&Search=Search
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdfhttp://www.alpha-man.eu/
What is gene therapy and how does this relate to Alpha-mannosidosis?

Gene therapy is a type of treatment for a small number of genetic conditions where genetic instructions are used to treat or prevent disease. In the case of Alpha-mannosidosis, gene therapy would potentially involve trying to change or block the incorrect genetic instructions of the MAN2B1 gene that are causing the disease of Alpha-mannosidosis. As of June 2019, gene therapy is something that is not yet available as a treatment for people with Alpha-mannosidosis. However, gene therapy for Alpha-mannosidosis is something that is currently being researched.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://rarediseases.org/rare-diseases/alpha-mannosidosis/
Is gene therapy available for people with Alpha-mannosidosis?

As of June 2019 there is no gene therapy available for treatment of people with Alpha-mannosidosis. However, gene therapy done in humans with Alpha-mannosidosis may be a possibility for treatment in the future. There are some research studies that show that gene therapy was helpful in treating Alpha-mannosidosis in cats with this condition.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ncbi.nlm.nih.gov/pubmed/26354342
Can a bone marrow transplant help with the symptoms of Alpha-mannosidosis?

A bone marrow transplant is a type of hematopoietic stem cell transplant, or HSCT. A HSCT, replaces the missing alpha-mannosidase enzyme in people with Alpha-mannosidosis. This can improve some of the symptoms of the Alpha-mannosidosis like a large liver and spleen, frequency of infections, and hearing loss. A HSCT does not usually improve the problems with the bones, problems with the eyes, or the problems that people with Alpha-mannosidosis can have with their mental development and the brain. Since Alpha-mannosidosis is a progressive condition, having a HSCT is considered to be most beneficial early on in life. There are some reports of people with Alpha-mannosidosis having successful HCST and other reports of people with this condition not having a successful HCST. HCST also has significant risks to the person undergoing the procedure. The risks and benefits of HSCT should be discussed with your doctor.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://www.ojrd.com/content/3/1/21
Are problems during pregnancy common for people with Alpha-mannosidosis?

Fertility, or the ability to become pregnant, is not known to be affected in people with Alpha-mannosidosis. However, many people with Alpha-mannosidosis do not have children because of their medical problems or intellectual disability. As of June 2019, there are no case reports in the literature of a woman with Alpha-mannosidosis reproducing.

References
  • http://www.omim.org/entry/248500
  • http://rarediseases.org/rare-diseases/alpha-mannosidosis/
If two people with Alpha-mannosidosis have a child, will their child also have Alpha-mannosidosis?

Most people with Alpha-mannosidosis do not have children because of their medical problems or intellectual disability. As of June 2019, there are no case reports in the literature of a woman with Alpha-mannosidosis reproducing. In theory, however, if two people with Alpha-mannosidosis have a child, all of their children will also have Alpha-mannosidosis. This is because the parents do not have genetic instructions for the working alpha-mannosidase enzyme for their children to inherit.

References
  • http://ghr.nlm.nih.gov/condition/alpha-mannosidosis
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
If more than one person in the same family has Alpha-mannosidosis, will they all have similar symptoms?

Even if more than one person in the same family has Alpha-mannosidosis and the same genetic changes that causes the condition, that does not necessarily mean that they will all have the same symptoms or severity of the condition. This is because Alpha-mannosidosis is a variable condition that affects different people differently.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ojrd.com/content/3/1/21
Is Alpha-mannosidosis found in other animals or just in humans?

There are some animals, such as cats and guinea pigs, that can also have a condition like Alpha-mannosidosis that is caused by low levels of alpha-mannosidase enzyme.

References
  • http://www.omim.org/entry/248500
  • http://www.ncbi.nlm.nih.gov/pubmed/26354342
  • http://www.ojrd.com/content/3/1/21
Does the type of genetic changes a person has in the MAN2B1 gene impact the type of symptoms they may have associated with Alpha-mannosidosis?

There are some specific genetic changes that are associated with the more severe form of Alpha-mannosidosis, but other genetic changes have been found in, both people with the severe form of Alpha-mannosidosis and people with the mild form of Alpha-mannosidosis. Because of this, it is hard to know what form of the condition or what symptoms of Alpha-mannosidosis a person might have by just looking at their genetic changes. If you have a genetic testing result for the MAN2B1 gene and want to know more information about what those changes mean, talk to a genetic counselor. Genetic counselors can be found on the National Society of Genetic Counselors website.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ojrd.com/content/3/1/21
How much alpha-mannosidase enzyme activity is considered to be normal?

Normal levels of alpha-mannosidase in the body is determined by an accepted range at certain laboratories that perform this testing. The number for the normal “cutoff” may be different at different labs because of this and can also be different depending on what type of tissue is used for the testing (white blood cells, cultured skin cells, etc.). The “cutoff” should be listed on the testing result no matter what type of sample was used. For instance, the Mayo Clinic Mayo Medical Laboratories quotes the normal range to be anything more than 0.54 nanomoles per milligram of protein in cultured skin cells. Regardless of the “cutoff” number, alpha-mannosidase testing would tell if a person’s enzyme levels are below the normal range enough to be concerning for Alpha-mannosidosis.

References
  • http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/62511
My doctor says I have “dysostosis multiplex”; what does that mean in relation to my Alpha-mannosidosis?

Dysostosis multiplex is a medical term for a pattern of bone problems that are common in people with Mucopolysaccharidoses, including Mucopolysaccharidosis Type VII. These bone problems include abnormally shaped back bones (vertebrae) and ribs (spatulate), enlarged skull, too small and too thick leg bones (hypoplastic epiphyses and thickened diaphyses) and bullet-shaped finger and toe bones (metacarpals). Most people with Alpha-mannosidosis have some mild to moderate dysostosis multiplex.

References
  • http://www.omim.org/entry/248500
  • http://www.ojrd.com/content/3/1/21#B38
Are there other conditions where people may have low levels of alpha-mannosidase besides Alpha-mannosidosis?

As of June 14, 2016, there are no other genetic conditions known where a person has low levels of alpha-mannosidase besides Alpha-mannosidosis. Because of this, a low level of alpha-mannosidase on a blood test is diagnostic for Alpha-mannosidosis.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.omim.org/entry/248500
Can measuring alpha-mannosidase enzyme activity help determine if someone is a carrier of Alpha-mannosidosis?

Determining if someone is a carrier of Alpha-mannosidosis by looking at their alpha-mannosidase enzyme levels in the blood or in skin cells is possible, but can be unreliable. However, another form of carrier testing for Alpha-mannosidosis is done by genetic testing that looks for changes in a person’s MAN2B1 genes. This is a more reliable and conclusive test to determine if someone is a carrier for Alpha-mannosidosis.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ojrd.com/content/3/1/21#B38
  • http://www.omim.org/entry/248500
Can occupational therapy help the symptoms of Alpha-mannosidosis?

Occupational therapy may not directly improve the symptoms of Alpha-mannosidosis, however, it can help some people with this condition learn developmental skills or other adaptive techniques. Talk with a doctor or occupational therapist to see if occupational therapy could be helpful to improve the day to day life of your family members with Alpha-mannosidosis.

References
  • http://www.health.gov.il/UnitsOffice/HD/MHealth/Occupational_Therapy/Documents/OT_people_%20LD_IJOT_EN.pdf
Can physical therapy help the symptoms of Alpha-mannosidosis?

Physical therapy can help with some of the joint pain and stiffness that people with Alpha-mannosidosis can experience. A physical therapist can also help a person with Alpha-mannosidosis be as active as possible without causing joint pain so they can improve their joint function and overall health.

References
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdfhttp://www.ncbi.nlm.nih.gov/books/NBK1396/
Can speech therapy help the symptoms of Alpha-mannosidosis?

Many children with Alpha-mannosidosis have problems with speech or do not speak at the same time that other children usually start speaking. For this reason, speech therapy may be helpful for some of people with this condition early on in their development. Talking with a doctor or speech therapist can give you more information about whether speech therapy may be helpful for your family member with Alpha-mannosidosis.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.omim.org/entry/248500
Is there a specific diet that people with Alpha-mannosidosis should follow?

As of June 2019, there are no specific diets recommended for people with Alpha-mannosidosis. Dieticians, nutritionists, and other doctors can help determine if specific diet changes may be helpful for people with Alpha-mannosidosis depending on their individual symptoms.

References
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
What types of special services can be useful to help the learning of people with Alpha-mannosidosis?

Everyone with Alpha-mannosidosis has some degree of intellectual disability, usually mild to moderate. There are some special services that can help these people with the learning problems associated with this condition. Many people with Alpha-mannosidosis use sign language to help with educational and social learning for those with hearing loss, early educational intervention to help with social skills, speech therapy, and special education classes.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
What can I do if my child with Alpha-mannosidosis has behavioral problems or signs of depression?

If your child with Alpha-mannosidosis is exhibiting behavioral problems, signs of depression, or other signs of a mental illness that could be related to having a long term illness, there are a few different resources that may be helpful for them. For behavioral problems, counseling or behavioral therapy may be useful. For depression or other mental illnesses, counseling by a psychologist or being treated by a psychiatrist may be helpful. If you are concerned about your child having behavioral problems, depression, or other signs of a mental illness, ask for a referral to a specialist who can help pinpoint the issue.

References
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://rarediseases.org/rare-diseases/alpha-mannosidosis/
Does everyone with Alpha-mannosidosis have psychiatric problems?

Different people with Alpha-mannosidosis will have different symptoms of this condition. One research study in 2007 found that about 25% (1 in 4) of people with Alpha-mannosidosis had some type of psychiatric medical concern. The most common psychiatric problems that people with Alpha-mannosidosis have are confusion, delusions, hallucinations, anxiety, and depression. For those people with psychiatric concerns, the usual age of onset was late puberty to early adolescence.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.ojrd.com/content/3/1/21#B38
How can hydrotherapy help the symptoms of Alpha-mannosidosis?

Hydrotherapy is the use of water to treat or prevent a disease. Performing physical exercises in water may reduce some of the strain on the joints that people with Alpha-mannosidosis can have. The use of steam to reduce mucus in the chest is another form of hydrotherapy that can be helpful for people with Alpha-mannosidosis.

References
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
Where can caregivers of people with Alpha-mannosidosis get support?

Caring for people with any long term condition can be tiring and challenging. This is no different for parents or other caregivers of people with Alpha-mannosidosis. If you are a caregiver in need of support, try to take time for yourself, set aside time for personal counseling, or look for other resources at http://caregiveraction.org/.

References
  • http://caregiveraction.org/
Are infections something that is common in people with Alpha-mannosidosis?

Recurring ear and sinus infections are common in people with Alpha-mannosidosis. Because of the airway problems that some people with this condition can have, respiratory infections can also be common. For this reason, flu and other vaccines that protect against these types of infections should be considered for people with Alpha-mannosidosis.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK1396/
  • http://www.mpssociety.org.uk/files/5313/6914/1863/Guide-AlphaMannosidosis-2013.pdf

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