UDN

Solving Medical Mysteries
Through Team Science

Participant 067

 

Male, age 7 with global developmental delay, lack of coordinated movement (dysmetria), toe walking, right sided weakness, right hearing impairment, and weak cartilage in the walls of the larynx (laryngomalacia)

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Participant 066

 

Female, age 11 with Wieacker-Wolff syndrome

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Participant 065

 

Male, age 7 with an undiagnosed neuromuscular disorder

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Participant 064

 

Male, age 10 with arthrogryposis multiplex congenita causing decreased flexibility of his joints, low muscle tone (muscle hypotonia), and low bone density (osteopenia)

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Participant 063

 

Male, age 6 with developmental delay, difficulty swallowing (dysphagia), low muscle tone (hypotonia), and difficulty walking (progressive gait disturbance)

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Participant 062

 

Male, age 56 with weakness, difficulty walking, polyneuropathy, seizure-like events, and cognitive decline

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Participant 061

 

Female, age 22 with refractory seizures

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Participant 060

 

Male, age 11 with childhood onset dystonia 28

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Participant 059

 

Male, age 5 with developmental delay and regression, seizures, and difficulty controlling voluntary movements (ataxia)

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Participant 058

 

Female, age 2 with an undiagnosed autoimmune condition

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