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Neuromyotonia (NMT), so called Isaac's syndrome, is a rare disorder in which hyperexcitability of peripheral motor nerves leads to intermittent muscle contractions. It is characterized by muscle twitching at rest (visible myokymia), cramps, hyperhidrosis, paraesthesiae, mild muscle weakness. and impaired muscle relaxation, or pseudomyotonia. Electromyographic recording is a key diagnostic tool in detecting myokymia and neuromyotonia. Pathophysiology of neuromyotonia is claimed to be related immune disorder, autoimmune anti-voltage-gated potassium-channel antibodies and genetic mutation in potassium channel. KCNA1 (Kv1.1) mutation was mostly reported in a autosomal dominant trait. In the present study, we report a family affected with myokymia,worsening with elevated body temperature, febrile illness or spicy food. How the change in temperature influence clinical features of channelopathies is an interesting topic. Variant clinical severity of family members are recorded. The index patient has possible autoimmune mechanism involvement because of his clinical feature of myasthenia gravis with thymoma and hyperthyroidism. Further analyzing the genetic mutation in potassium channelopathy may provide researchers some pathophysiological insight into the Isaac's syndrome.
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Inclusion Criteria:
Exclusion Criteria:
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We interview and examine the family members directly at our hospital and home visit or indirectly by telephone visit.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Yi-ting Hsu, MD | Contact | 886-4-22062121 | 5039 | formosa1005@yahoo.com.tw |
| Name | Affiliation | Role |
|---|---|---|
| Yi-Ting Hsu, MD | China Medical University Hospital | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| China medical university hospital | Recruiting | Taichung | Taiwan | 404 | Taiwan | |
| China Medical University Hospital |
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| ID | Term |
|---|---|
| D020386 | Isaacs Syndrome |
| D020385 | Myokymia |
| ID | Term |
|---|---|
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
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Genomic DNA was extracted from each patient's peripheral blood leukocytes using Genomaker DNA extraction kit (Blossom, Taipei, Taiwan). The complete KCNA1 coding region, including the intron/exon boundaries, was amplified according to the procedure reported by Imbrici et al
| Not yet recruiting |
| Taichung |
| 404 |
| Taiwan |
|
| China medical university hospital | Recruiting | Taichung | 404 | Taiwan |
|
| D009422 | Nervous System Diseases |
| D020879 | Neuromuscular Manifestations |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |