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Mucolipidoses - Glossary

Medically Reviewed by dr. simi paknikar, MD on Jul 31, 2015


Glossary

Ataxia: Lack of muscle coordination where the person may have difficulties with functional activities like walking, gripping objects and even swallowing.

Autosomal recessive: A pattern of inheritance of a disease - if a child has to inherit the disease from the parents, both parents have to be carrying a copy of the defective gene. The gene is present on one of the 22 autosomes and not the sex chromosomes.


Hypotonia: Lack/loss of muscle tone. Children/adults with hypotonia seem limp and weak.

Splenomegaly: Enlargement of the spleen. This puts the spleen at a risk of rupture.

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