What can be expected after a diagnosis of alpha-mannosidosis?
Alpha-mannosidosis can have a significant impact on patients and their families, and the all-consuming nature of the condition means that patients require a high level of care. Even in mild forms, patients can be expected to have a wide range of medical conditions. Some of the main complications include:
- Otitis media (inflammation of the ear)
- Hearing loss
- Dental alterations
- Joint problems
- Spinal deformities
- General orthopedic problems
- Cognitive impairment
- Ocular
- Respiratory issues
In addition to a specialist in rare metabolic diseases, patients are typically seen by an ophthalmologist (eye doctor), an otolaryngologist (ear, nose, and throat doctor) and/or hearing specialist, a psychiatrist or psychologist, and an orthopedic specialist.
Primary Diagnosticians/Managers
Neurologist/
Pediatric neurologist
Pediatric
neurodevelopmentalist
Geneticist
Pediatrician
Pulmonologist
Secondary Treaters/Symptom Managers
Ophthalmologist
Dentist
Otolaryngologist/
Hearing specialist/ENT
GI/Nutritionist
Immunologist
Psychiatrist/
Psychologist/Social worker
Orthopedic specialist
At present, there is no cure for the condition. To date, management has been largely focused on treatment of the various symptoms of the disease.
Treatment is mostly aimed at helping to prevent complications and optimizing the quality of life. Several types of interventions can be expected, including:
Hearing aids
for hearing loss
Eyeglasses to
correct vision
Orthopedic boots or
other mobility aids
Use of a
wheelchair
Home environment
- Wheelchair ramps may be needed
- For patients with visual impairment, it can help to ensure the home is well lit, remove trip hazards, and install non-slip flooring in the bathroom and kitchen
Educational intervention
- Patients are likely to need early educational intervention, such as help with development of social skills, speech, physical therapy, and special education
Are there treatment options for alpha-mannosidosis?
Today, newer treatments that address the underlying cause of the disease are being studied:
- Enzyme replacement therapy (ERT), which is used in other lysosomal storage disorders, is meant to replace the missing enzyme and reduce the amount of sugar build-up in the cells
- Another type of therapy is bone marrow transplantation (BMT), which uses healthy donor cells to produce a working alpha-mannosidase enzyme
BMT is not an option for everyone due to age restriction. The average age of alpha-mannosidosis patients using BMT is 3.6 years.