What are the symptoms of a lysosomal storage disease?
There is great variability in the clinical features of these different diseases. Symptoms can begin before birth (e.g. fetal hydrops) or can become obvious in the 90th decade (e.g. Gaucher disease). Many young patients present with developmental delay or regression of learned skills, spasticity, ataxia, abnormal tone or seizures, while others present with evidence of liver and/or spleen enlargement, bone or eye abnormalities, skin lesions, or facial coarsening, with or without a neurological component. A number of adolescent and adult patients with weakness, psychosis and mental deterioration have been diagnosed with a lysosomal storage disease.
