Table 1. Patient Characteristics at Presentation and Follow-up
Age, yearsALT, IU/LAST, IU/LReason for Metabolic PanelSymptomsInitial CK, IU/LMuscle and Neurologic Symptoms at PresentationMuscle and Neurologic Symptoms at Follow-upFinal Diagnosis
227350TonsillitisNone4,867Calf hypertrophyN/ADMD/BMD
Exon 45–47 deletion
<1341451Failure to thriveFailure to thrive19,874Calf hypertrophyWide-based gait, decreased reflexesDMD/BMD
Shoulder weaknessExon 3–44 deletion
<1246497Splenomegaly seen during routine physicalNone12,587HyperextensibilityN/ADMD/BMD
Head lagExon 3–29 deletion
6477324Poor growthDark urine12,121NoneToe walkingUndiagnosed
5>50>40GastroenteritisShort stature14,752Calf hypertrophyWeaknessDMD
Gower signExon 49–54 deletion
1114094Abdominal painAbdominal pain5,833HeadachesHeadachesBMD
Exon 45–47 deletion
1118196Feeding intolerance, failure to thriveFailure to thrive, feeding intolerance17,919Developmental delayHearing lossDMD/BMD
Hypotonia, head lag, speech delaySleep apnea, head lag, Gower signExon 8–11 deletion
3497318Upper respiratory tract infectionNone22,009Weakness,Calf hypertrophy, weaknessDMD
Decreased reflexes, hypotonia, Gower signExon 20–25 deletion
2300–400300–400Prolonged diarrheaChronic constipation, anemia12,000Calf hypertrophyFatigue, hypotonia, calf hypertrophy, Gower's signBMD/DMD
WeaknessExon 48–52 deletion
4186235Leg pain, failure to thriveFailure to thrive, abdominal pain, dark urine9,932Decreased mobility, limpFatigue, muscle crampingDystroglycanopathy
29980Urinary tract infection917NoneHyperextensibilityDMD/BMD carrier
Heterozygous for exon 48–50 deletion
  • Reference ranges: ALT, 0–50; AST, 0–40; γ-glutamyl transpeptidase, 5–55.

  • ALT, alanine aminotransferase; AST, aspartate aminotransferase; BMD, Becker muscular dystrophy; CK, creatinine kinase; DMD, Duchenne muscular dystrophy; IU/L, international units per liter.