Spinal Muscular Atrophy (SMA) Flashcards Preview

Genetic Syndromes > Spinal Muscular Atrophy (SMA) > Flashcards

Flashcards in Spinal Muscular Atrophy (SMA) Deck (3)
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1
Q

What is SMA?

A

Progressive degeneration and loss of anterior horn cells

2
Q

What is the inheritance pattern of SMA?

A

AR

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