Symptoms & diagnosis


Disease management

Impact of the Disease

Alpha Mannosidosis is a lifelong multi-systemic progressive disease, with neuromuscular and skeletal deterioration over decades.1

A patient’s quality of life is often severely impacted by disease progression, which manifests itself across all ages along a continuum. Progressive impairment is seen across multiple areas, including endurance, mobility, respiratory and neurocognitive development.23

During the first decade of life, a child with the condition may have frequent infections, hearing problems, distinctive facial features and developmental delay.4

Over the following decades, an adult may experience difficulties with movement, such as joint problems, swelling, an unsteady gait and muscle weakness.5

The long-term forecast for the condition is poor.6 There is generally a slow progression of neuromuscular and bone changes over decades. There may be behavioural problems, or psychiatric disorders.78

Independent living will be difficult, and Alpha Mannosidosis patients may become socially isolated, and during the late stages of the disease, they may become wheelchair bound, as they can no longer walk unaided.9 This is likely to have a negative impact upon the quality of life of care givers and family members.1011



Open References   [ + ]