Conditions Flashcards by Saesol Shin

Q

What is Alber-s Schonberg diesease

A

Type II of AD osteopetrosis

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Q

SMN1 gene on chromosome 5?

A

SMA

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Q

Genetic defect with loss of anterior horn cells

A

SMA

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Q

Acute Werdnig-Hoffman

A

SMA type 1

Global hypotonia, difficulty swallowing, absent deep tendon reflexes, and tongue atrophy, with disease onset within the first 6 months of birth

All share hypotonia, hyporeflexia, proximal greater than distal muscle weakness, and fasciculations

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Q

Chronic Wernig-Hoffman

A

SMA type 2

Delayed motor milestones, scoliosis, and joint contracture, with disease onset around 6-18 months of age

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Q

Kugelberg-Welander

A

SMA type 3

Scoliosis, hand tremors, increased lumbar lordosis, and bilateral Trendelenburg lurch, with disease onset later in life (>18 months of age)

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