Muscular Dystrophy - Taylor

CASE I

• 6 YO M

• delayed motor development

  • trouble lifting head on time

  • did not start walking until 2 YO

  • trouble reaching up for things

  • unable to keep up with friends

• no breathing

• no heart issues

• denies SOB or chest pain

• neurologic examination:

  • thin with weakness in proximal arms and legs

  • reflexes are diminished but present

  • equal with normal sensation

• Possible Tests to Do:

  • Gower’s Test

  • Look at Calves for Duchenne (for psuedohypertrophy)

  • Assess walk (waddle gate) for signs of muscle weakness

• PE:

  • possible enlargement of calves is noted but general examination is otherwise normal

  • positive Gower’s sign (pt uses arms to ‘walk’ himself up off the ground to a standing position)

• Diet:

  • mother reports that he eats enough and has a balanced diet

• Family History:

  • no prior diagnoses/treatments or hospitalizaitons

  • mother has no siblings

  • pt has an older sister (10 YO) with no symptoms

• Labs:

  • blood was drawn and CK returned at 5000 U/L

    • in children, normal is ~ 250 U/L

• Differentials:

  • Duchenne Muscular Dystrophy