Alpha Mannosidosis encompasses a continuum of clinical findings, from a perinatal-lethal form to one not diagnosed until adulthood. Patients may present to doctors, nurses or health visitors at different times with different ad hoc symptoms, making the link to suspect a diagnosis of Alpha Mannosidosis difficult.1
Generally, phenotypes of Alpha Mannosidosis patients are not considered to be clearly distinguishable, so the prediction of the clinical course for an individual patient is very challenging. The main symptoms can be shared with other lysosomal storage disorders, such as mucopolysaccharidosis.2
There is a high rate of undiagnosed patients and delay in diagnosis.
Due to the progressive nature of the disease, with different symptoms prompting referral to different specialists, there is a lack of multi-disciplinary approach, diagnostic tools, diagnostic algorithm, and guidelines.
A multi-disciplinary approach is crucial for diagnosis and disease management.
Because this is a progressive disease, the earlier the correct diagnosis is achieved the better.3
Open References [ + ]
|1.||↑||Malm D &Nilssen Ø. Alpha-mannosidosis. Orphanet J Rare Dis 2008;3:21|
|2.||↑||Malm D &Nilssen Ø. Alpha-mannosidosis. Orphanet J Rare Dis 2008;3:21|
|3.||↑||Malm D &Nilssen Ø. Alpha-mannosidosis. Orphanet J Rare Dis 2008;3:21|