Alpha-mannosidosis

Symptoms

What are the main symptoms of Alpha-mannosidosis?

The main health problems the buildup of oligosaccharides can cause in people with Alpha-mannosidosis include intellectual disability, pronounced or "coarse" facial features, and skeletal problems like abnormally shaped back bones (vertebrae), thickened bones at the top of the skull, reduced bone density (osteopenia), bowed legs, and knock-knee abnormalities. People with Alpha-mannosidosis can also have medical problems such as frequent infections, hearing loss, vision loss from cloudy corneas, enlargement of the liver and spleen, muscle weakness and problems coordinating movement (ataxia).

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Are there earlier onset, later onset, or variant forms of Alpha-mannosidosis?

What health problems should I look for in Alpha-mannosidosis?

Are there any other diseases that look a lot like Alpha-mannosidosis (phenocopies, differential diagnoses)?

Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of Alpha-Mannosidosis?

Is there variable expression or incomplete penetrance in Alpha-mannosidosis?

If this is a predisposition gene, what the chances I will get Alpha-mannosidosis?

Are there earlier onset, later onset, or variant forms 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 and do not have skeletal abnormalities, but do have muscle weakness 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 and do have skeletal problems, muscle weakness, as well as a slowly progressing disease. Alpha-mannosidosis type 3 is the most severe form of the condition. Alpha-mannosidosis type 3 is where people with this condition usually die before birth or at a young age because of progressive problems with the brain and other parts of the nervous system.

What health problems should I look for in Alpha-mannosidosis?

The main health problems the buildup of oligosaccharides can cause in people with Alpha-mannosidosis include intellectual disability, pronounced or "coarse" facial features, and skeletal problems like abnormally shaped back bones (vertebrae), thickened bones at the top of the skull, reduced bone density (osteopenia), bowed legs, and knock-knee abnormalities. People with Alpha-mannosidosis can also have medical problems such as frequent infections, hearing loss, vision loss from cloudy corneas, enlargement of the liver and spleen, muscle weakness and problems coordinating movement (ataxia).

Are there any other diseases that look a lot like Alpha-mannosidosis (phenocopies, differential diagnoses)?

Some of the features found in people with Alpha-mannosidosis, such as skeletal changes, intellectual disability, pronounced or "coarse" facial features, and loss of control of body movements (ataxia), can also be found in some other genetic conditions. In particular, the symptoms of alpha-mannosidosis may be confused with Mucopolysaccharidosis Type I and other lysosomal storage diseases. However, alpha-mannosidosis can be distinguished from other storage disorders by enzyme or genetic testing done on the blood or other cells.

Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of Alpha-Mannosidosis?

There are a few key features of people with Alpha-mannosidosis that distinguish them from those with other types of genetic conditions. People with Alpha-mannosidosis have unique "coarse" facial features from the build up of oligosaccharides caused by genetic changes in the MAN2B1 gene, which causes the face to look more pronounced and full than usual. The buildup of oligosaccharides can also cause corneal scarring, or opacities, in the eye and problems in the brain with learning and development. However, many of these symptoms of Alpha-mannosidosis can be found in many lysosomal storage conditions.

Is there variable expression or incomplete penetrance in Alpha-mannosidosis?

Different people with Alpha-mannosidosis will have different symptoms and different severities of disease. This is called variable expression.

References
If this is a predisposition gene, what the chances I will get Alpha-mannosidosis?

Having genetic changes in the MAN2B1 gene associated with Alpha-mannosidosis is not a predisposition, but a cause of Alpha-mannosidosis.

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