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How should I prepare for an appointment to diagnose mucolipidoses?

Your doctor will want to know about your heritage, especially if you are of Ashkenazi Jewish descent. Be prepared to describe your child's symptoms, including all physical, mental, and behavioral details. Your doctor will probably want to take blood or skin tests to identify the gene that causes mucolipidoses. It's possible that an MRI (magnetic resonance imaging) test will be performed to identify any abnormalities in the brain. If you have had any genetic testing done prior to your appointment, bring your records to your doctor's office.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.