Paula and Bobby
Parents of Lillie
Mannosidosis, Alpha B, Lysosomal (MANSA)
What is Mannosidosis, Alpha B, Lysosomal (MANSA)?
It is a rare genetic disorder that affects multiple organs and systems of the body. Common symptoms include skeletal abnormalities, characteristic facial features and intellectual disability.
Symptoms vary in their severity from mild to more severe. The early-onset form of the syndrome means infants generally do not survive past childhood. Those with a more mild form of the syndrome generally present with symptoms later, and they progress more slowly. Individuals with the less severe form of the syndrome tend also to have a higher life expectancy.
The condition occurs in 1 in every 500,000 live births globally.
What gene changes cause Mannosidosis, Alpha B, Lysosomal (MANSA)?
Changes in the MAN2B1 gene are responsible for the syndrome.
The syndrome is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Mannosidosis, Alpha B, Lysosomal (MANSA)?
Characteristics facial features of the syndrome include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened nose bridge, protruding jaw, widely spaced teeth and a large tongue.
The main skeletal abnormalities related to the syndrome include a reduced bone density, thickening of bones at the top of the skull, abnormalities of the bones in the spine, knock knees and a general deterioration of bones and joints.
The syndrome may also cause symptoms relating to movement and the muscles. This can include ataxia, which is a difficulty in coordination movements, muscle weakness, and motor skills delay. Speech and language development may also be affected and delayed.
Other medical conditions or issues related to the syndrome include an enlarged liver and spleen, a buildup of fluid in the brain, hearing loss and cataracts.
It is not uncommon for some affected individuals to suffer from psychiatric symptoms including depression, anxiety, and hallucinations. These may be triggered by stress or stressful situations.
How does someone get tested for Mannosidosis, Alpha B, Lysosomal (MANSA)?
The initial testing for Mannosidosis, Alpha B, Lysosomal syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing
What is FDNA Telehealth?
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