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. 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 (such as respiratory infections, skeletal changes) can be shared with other lysosomal storage disorders, such as MPS I, II, IVA and IVB. For these reasons, 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 still a need of a real multi-disciplinary approach, specific diagnostic tools, diagnostic algorithm, and guidelines. A multi-disciplinary approach is crucial for early diagnosis and appropriate patient management.

This event will gather participants from all over the world. Its aim is to create awareness on the complex spectrum of Lysosomal Storage Disorders with focus on mucopolysaccharidoses I, II, IV and alpha-mannosidosis, favoring the early correct diagnosis and appropriate patient management.