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.
