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Ocular Flutter

The video shows the presence of ocular flutter in a patient with progressive ataxia

ataxia with an autosomal ... ophthalmology #neurology #PhysicalExam

Myoclonus-Dystonia on Physical Exam

Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve

alcohol & may be autosomal ... Myoclonus #Dystonia #PhysicalExam

Myoclonus-Dystonia on Physical Exam

Myoclonus-dystonia: affects the neck, torso, and arms → myoclonus + dystonia. May improve

alcohol & may be autosomal ... Myoclonus #Dystonia #PhysicalExam

Autosomal Dominant Inheritance
- Most common mode of Mendelian inheritance
- Affected individual carries the

Autosomal Dominant ... one of a pair of autosomes ... #Autosomal #Dominant

Bilateral Foot Drop secondary to Nonaka Myopathy

48 yr old lady, difficulty in climbing stairs x 8

- Heterozygous Autosomal ... clinical #video #physicalexam

Central Cloudy Dystrophy of Francois (CCDF) on Slit Lamp Examination

Central Cloudy Dystrophy of Francois (CCDF) is

dystrophy has an autosomal ... clinical #video #physicalexam

Central Cloudy Dystrophy of Francois (CCDF) on Slit Lamp Examination

Central Cloudy Dystrophy of Francois (CCDF) is

dystrophy has an autosomal ... clinical #video #physicalexam

Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-

fibrillin function - Autosomal

Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm
Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown

Genetically determined: Autosomal ... dominant, Autosomal

$Inherited Non-hemolytic Disorders of Hyperbilirubinemia == Disorders of Conjugation == Gilbert Syndrome: • 5-10% of the population$

syndrome • An autosomal ... a super rare, autosomal ... Type II CN is an autosomal ... Syndrome: • Autosomal ... Dubin-Johnson: • Autosomal

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