AI Article Synopsis
- Neurogenetic diseases are quite common and the chapter outlines a systematic method for evaluating patients suspected of having these conditions.
- Key factors include recognizing clues from family history and the patient’s symptoms, particularly symptoms like ataxia, neuropathy, muscle weakness, and cognitive issues.
- Collaboration with a genetic counselor and thorough genetic testing are crucial for reaching an accurate diagnosis and providing appropriate care.
Article Abstract
Neurogenetic diseases are surprisingly common. This chapter reviews a systematic approach to the evaluation of a patient thought to have such a disease. The emphasis is on first recognizing potential clues to the diagnosis contained in the family history and presentation of symptoms. Ataxia, neuropathy, muscle weakness, dementia, epilepsy, and cognitive delay are all "reservoirs" of neurogenetic disease. A high index of suspicion for genetic causes and a thoughtful evaluation of simplex (sporadic) cases is often necessary. Then the physician can proceed to the differential diagnosis, genetic testing, and genetic counseling. A team approach including a genetic counselor is usually the best strategy.
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| http://dx.doi.org/10.1016/B978-0-444-63233-3.00001-4 | DOI Listing |
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