Alpha-mannosidosis is a rare lysosomal storage disorder that generally presents in early childhood. It is a progressive, highly heterogeneous disease that is difficult to recognize, and a diagnosis is usually reached after referrals to multiple specialists.1
Patients may present a continuum of clinical findings: most children appear normal at birth but clinical manifestations begin at a very early age followed by progression of clinical symptoms.2, 3
The rare, highly heterogeneous nature of alpha-mannosidosis hampers diagnosis, which is often delayed or overlooked: the disease is underdiagnosed and the long-term prognosis for untreated alpha-mannosidosis is poor.1
Therefore, in order to offer the patients a therapy as personalized as possible and aimed to improve their condition or to slow down the progression of the disease, a multi-disciplinary approach is crucial for diagnosis and disease management.1
Together with the multi-disciplinary approach, early diagnosis remains the best mean of initiating prompt treatment and minimising progressive symptoms.3
Early diagnosis of alpha-mannosidosis is important for genetic counseling because there is a 25% risk of disease recurrence (autosomal recessive disease), and parents can undergo prenatal or preimplantation diagnosis procedures.4
In alpha-mannosidosis, some of the main clincal features are:2, 5, 6
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