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Gaucher disease type 3, also known as chronic neuropathic Gaucher disease, occurs during the first decade of life.
In addition to the blood and bone abnormalities discussed above, affected individuals develop neurological complications that develop and progress slower than in Gaucher disease type 2. Associated neurological complications include mental deterioration; an inability to coordinate voluntary movements (ataxia); and brief, shock-like muscle spasms of the arms, legs or entire body (myoclonic seizures).
Some individuals with Gaucher disease type 3 may have difficulty moving their eyes side-to-side (horizontal gaze palsy).
Patients with Type 3 Gaucher disease can also have a vertical gaze palsy that usually occurs later than the horizontal gaze paresis. A significant proportion of patients also develop pulmonary (lung) disease (interstitial lung disease).
There can be wide variability in presentation and clinical course among patients with type 3 Gaucher disease.
Some affected patients may live into their teens and early 20’s, while others have lived for much longer (30’s and 40’s).
With increasing difficulties, affected individuals may require assistance to fulfill the task of daily living (for example, with eating, bathing, and ambulation).