Gaucher Disease - Revealing the clinical manifestations

Gaucher disease (GD) is a progressive, debilitating, and multisystemic disorder with highly variable clinical expressions. The clinical manifestations are as follows: Neurological manifestations observed are cognitive impairment, gaze palsy, spasticity, ataxia, dysphagia, and gait abnormalities. In the blood and other parts, there is hepatomegaly, splenomegaly, anemia, thrombocytopenia, and bone marrow infiltration. Erlenmeyer flask deformity, pathologic fracture, joint collapse, osteopenia, osteonecrosis, growth reduction, and other skeletal manifestations of bone pain or bone crisis. Often, patients with GD may remain undiagnosed for years, which results in severe complications, that can be prevented through enzyme replacement therapy. Early diagnosis and treatment can prevent or reverse severe disease complications. Request a free dried blood spot kit.