Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder
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, chro...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2016/9212369 |
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| author | Ashley Cannon Svetlana Kurklinsky Kimberly J. Guthrie Douglas L. Riegert-Johnson |
| author_facet | Ashley Cannon Svetlana Kurklinsky Kimberly J. Guthrie Douglas L. Riegert-Johnson |
| author_sort | Ashley Cannon |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-33455289ee714ed295e7c65ba14d177c |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-33455289ee714ed295e7c65ba14d177c2025-02-03T06:06:13ZengWileyCase Reports in Neurological Medicine2090-66682090-66762016-01-01201610.1155/2016/92123699212369Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain DisorderAshley Cannon0Svetlana Kurklinsky1Kimberly J. Guthrie2Douglas L. Riegert-Johnson3The Department of Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USADepartment of Pain Medicine, Mayo Clinic, Jacksonville, FL 32224, USAThe Department of Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USAThe Department of Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USAObjective. 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.http://dx.doi.org/10.1155/2016/9212369 |
| spellingShingle | Ashley Cannon Svetlana Kurklinsky Kimberly J. Guthrie Douglas L. Riegert-Johnson Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder Case Reports in Neurological Medicine |
| title | Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder |
| title_full | Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder |
| title_fullStr | Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder |
| title_full_unstemmed | Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder |
| title_short | Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder |
| title_sort | advanced genetic testing comes to the pain clinic to make a diagnosis of paroxysmal extreme pain disorder |
| url | http://dx.doi.org/10.1155/2016/9212369 |
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