lysosomal storage diseases

What are the Clinical Manifestations of Lysosomal Storage Diseases?

Clinical manifestations of LSDs are diverse and can affect multiple organ systems. Common symptoms include:
- Neurological deficits (e.g., developmental delay, seizures, ataxia)
- Hepatosplenomegaly (enlargement of the liver and spleen)
- Cardiovascular abnormalities (e.g., cardiomyopathy, valvular disease)
- Skeletal deformities (e.g., dysostosis multiplex)
- Ocular abnormalities (e.g., corneal clouding, cherry-red spots)
The severity and onset of symptoms can vary widely among different LSDs and even among individuals with the same disease.

Frequently asked queries:

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