Child Muscle Weakness Navigation
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  • Know the Signs
  • CK Testing
  • Advances & Treatments
  • Materials for Families
  • Additional Resources
  • Motor Delay Algorithm
  • Case Studies
  • Video Library
  • About Us

Case Studies

Case Studies

  • Infant: Hyper-flexibility and delayed development (Autosomal dominant Ullrich congenital muscular dystrophy, UCMD)

  • Infant: Hypotonia and weak cry (Spinal muscular atrophy)

  • 6-month-old: Delayed early motor development (Duchenne muscular dystrophy)

  • 9-month-old: Delayed sitting (Charcot-Marie-Tooth disease type 1A)

  • 14-month-old: Non-weight bearing (Spinal muscular atrophy, type II)

  • 18-month-old: Language and walking delay (Duchenne muscular dystrophy)

  • 20-month-old: Delayed language and motor development (Early injury to the brain)

  • Toddler: Delayed walking and talking (Myotonic dystrophy)

  • 4-year-old: Elevated transaminases (Limb girdle muscular dystrophy type 1B, LGMD1B)

  • 5-year-old: Inability to keep up with peers (Limb girdle muscular dystrophy type 2I, LGMD2I)

  • 8-year-old: Trouble breathing and loss of motor skills (Early-onset thymidine kinase 2 deficiency, TK2D)
  • Know the Signs
  • CK Testing
  • Advances & Treatments
  • Materials for Families
  • Additional Resources
  • Motor Delay Algorithm
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  • Video Library
  • About Us

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