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

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!