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Female, age 49 with muscle weakness, balance problems, clumsiness, muscle twitching (fasiculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures
|Date of Report||November 21, 2016|
The patient was in excellent health until age 45 when she started to notice muscle weakness and difficulty keeping up while playing sports. Her muscle weakness has continued to worsen and she now has balance problems, muscle twitching (fasciculations) and cramps, and difficulty with coordination. She has significant respiratory muscle weakness and requires nocturnal bi-level ventilation (BiPAP).
The patient has double vision (diplopia on lateral gaze) with weakness (opthalmoplegia) and started having seizures (left temporal lobe focus). These seizures are now controlled with carbamazepine treatment and a pacemaker.
The patient also has an abnormal heart rhythm (second-degree AV block) and had a pacemaker implanted at age 48. Based on recent imaging findings, she has probable early heart disease (cardiomyopathy).
She has been diagnosed with a potassium channel disease (channelopathy) with impaired renal excretion, and has had several episodes of extreme high potassium (hyperkalemia) with dramatic ECG changes, respiratory failure, and very low serum phosphate.
The patient also has stage 3 thyroid cancer (multifocal papillary).
|Previously Considered Diagnoses||
|Genetic Variants of Interest||Clinicians and researchers are investigating the following genetic changes to see if they are causing the patient’s symptoms:|
|Gene||Inheritance Pattern||Position||Transcript||DNA Change||Protein Change|
|KCND3*||Autosomal dominant||chr1: 112323335||NM_004980||c.1348C>T||p.L450F|
|WNK1*/**||Autosomal recessive||chr12: 987490||NM_018979||c.2336C>T||p.A779V|
**Patient only has one variant
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