UDN

Solving Medical Mysteries
Through Team Science

Participant 013

fasiculations

 

Female, age 49 with muscle weakness, balance problems, clumsiness, muscle twitching (fasciculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures

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Participant 012

 

Female, age 2 with congenital disorder of glycosylation, type IIm

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Participant 011

nasal polyps

 

Male, age 55 with wheezing, chronic sinus infections (sinusitis), nasal polyps, chronic fatigue, a bulging, weakened wall of the aortic root (ascending aortic root aneurysm), and neuropathy

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Participant 010

complex neuromuscular condition

 

Male, age 7 with a complex neuromuscular condition

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Participant 009

CCDC40 & DNAH11

 

Female, age 14 with primary ciliary dyskinesia

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Participant 008

developmental delay

 

Male, age 13 with global developmental delay, autism, severe nearsightedness (myopia), different facial features, and a history of heart defects (atrial septal defect, ventricular septal defect) and cleft palate

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Participant 007

 

Male, age 35 with triple A syndrome (achalasia (esophagus damage), Addison disease (adrenal gland disorder), and alacrima (inability to produce tears)) of unknown cause

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Participant 006

increased weight

 

Male, age 3 with low muscle tone (hypotonia), developmental delay, and increased weight

YouTube channel

MIT Technology Review story

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Participant 005

Shashi-Pena syndrome

 

Male, age 8 who is larger than average (macrosomia) and has atypical facial features (including a large birthmark on his forehead (glabellar hemangioma)), a decrease in brain white matter (cerebral white matter atrophy), and learning difficulties

Interview (WRAL Channel 5)

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Participant 004

Seizures, cataracts, microcephaly

 

Male, age 20 months with seizures, cataracts, a small head size (microcephaly), and global developmental delay

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