Back to Search
Start Over
Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder.
- Source :
- Case Reports in Neurological Medicine; 7/21/2016, p1-7, 7p
- Publication Year :
- 2016
-
Abstract
- Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting. Academic tertiary care center. Design. Case report. Case Report. A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function SCN9A mutation by whole exome sequencing. This mutation resulted in an SCN9A channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder. In addition to the patient being diagnosed, four siblings have a clinical diagnosis of SCN9A channelopathy as they have consistent symptoms and a sister with a known mutation. For treatment, gabapentin was ineffective and carbamazepine was not tolerated. Nontraditional therapies improved symptoms and constipation resolved with pelvic floor retraining with biofeedback. Conclusion. Patients with a personal and family history of chronic pain may benefit from a referral to Medical Genetics. Pelvic floor retraining with biofeedback should be considered for patients with a SCN9A channelopathy and constipation. [ABSTRACT FROM AUTHOR]
- Subjects :
- PAIN diagnosis
GENETIC testing
EXOMES
TERTIARY care
GENETIC mutation
Subjects
Details
- Language :
- English
- ISSN :
- 20906668
- Database :
- Complementary Index
- Journal :
- Case Reports in Neurological Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 116933469
- Full Text :
- https://doi.org/10.1155/2016/9212369