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How is neurofibromatosis diagnosed?

Type 1 neurofibromatosis is typically diagnosed during a physical exam, though a doctor may also utilize X-rays, CT scans, or other imaging techniques. Type 2 neurofibromatosis is usually diagnosed via a combination of hearing loss and scans from diagnostic imaging tests. Genetic tests are available and can be used in diagnosing or predicting neurofibromatosis.

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How to Treat an Hereditary Angioedema Attack and Get Relief Fast
How to Treat an Hereditary Angioedema Attack and Get Relief Fast
Hereditary angioedema (HAE) is a genetic condition that causes swelling, typically of the face, hands, feet, digestive tract or throat. About 1 of eve...
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How Stress Affects Hereditary Angioedema
How Stress Affects Hereditary Angioedema
Also called HAE, hereditary angioedema is a genetic disorder that causes episodes of severe swelling. These episodes—also called HAE attacks or acute ...
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When does mitochondrial disease appear?
Foundation for Mitochondrial Medicine (FMM)Foundation for Mitochondrial Medicine (FMM)
Mitochondrial disease can appear at any age. For some it appears at birth. For others it develops ov...
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What causes urea cycle disorders (UCDs)?
Jumo HealthJumo Health
Urea cycle disorders (UCDs) are caused by a problem with some of the genes in the body. Genes are in...
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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.