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SB_Genetics (Pediatrics Royal College 2018) > Spinal Muscular Atrophy (SMA) > Flashcards

Spinal Muscular Atrophy (SMA) Flashcards

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1
Q

What is SMA?

A

Progressive degeneration and loss of anterior horn cells

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2
Q

What is the inheritance pattern of SMA?

A

AR

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3
Q

What are the clinical characteristics of SMA?

A
  1. Progressive symmetric proximal>distal muscle weakness
  2. Hypotonia
  3. Areflexia/Hyporeflexia
  4. Tongue fasciculations
  5. Feeding difficulties
  6. FTT
  7. Scoliosis
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SB_Genetics (Pediatrics Royal College 2018) (57 decks)

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