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Age, years ALT, IU/L AST, IU/L Reason for Metabolic Panel Symptoms Initial CK, IU/L Muscle and Neurologic Symptoms at Presentation Muscle and Neurologic Symptoms at Follow-up Final Diagnosis 2 273 50 Tonsillitis None 4,867 Calf hypertrophy N/A DMD/BMD Exon 45–47 deletion <1 341 451 Failure to thrive Failure to thrive 19,874 Calf hypertrophy Wide-based gait, decreased reflexes DMD/BMD Shoulder weakness Exon 3–44 deletion <1 246 497 Splenomegaly seen during routine physical None 12,587 Hyperextensibility N/A DMD/BMD Head lag Exon 3–29 deletion 6 477 324 Poor growth Dark urine 12,121 None Toe walking Undiagnosed 5 >50 >40 Gastroenteritis Short stature 14,752 Calf hypertrophy Weakness DMD Gower sign Exon 49–54 deletion 11 140 94 Abdominal pain Abdominal pain 5,833 Headaches Headaches BMD Exon 45–47 deletion 1 118 196 Feeding intolerance, failure to thrive Failure to thrive, feeding intolerance 17,919 Developmental delay Hearing loss DMD/BMD Hypotonia, head lag, speech delay Sleep apnea, head lag, Gower sign Exon 8–11 deletion 3 497 318 Upper respiratory tract infection None 22,009 Weakness, Calf hypertrophy, weakness DMD Decreased reflexes, hypotonia, Gower sign Exon 20–25 deletion 2 300–400 300–400 Prolonged diarrhea Chronic constipation, anemia 12,000 Calf hypertrophy Fatigue, hypotonia, calf hypertrophy, Gower's sign BMD/DMD Weakness Exon 48–52 deletion 4 186 235 Leg pain, failure to thrive Failure to thrive, abdominal pain, dark urine 9,932 Decreased mobility, limp Fatigue, muscle cramping Dystroglycanopathy 2 99 80 Urinary tract infection 917 None Hyperextensibility DMD/BMD carrier Heterozygous for exon 48–50 deletion 16 195 147 Unknown None 12,131 None None Undiagnosed 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.
Liver Imaging Liver Biopsy Time to CK Measurement (months) Time to Neurology Consultation (months) Time to Diagnosis (months) US No 3.5 16 17 US No 0.5 3 1 US No 2 4 4 None No 2 2 Undiagnosed US No 1 2 3 MRI, MRCP, HIDA Laparoscopic biopsy 9 9 11 None No 0.75 1 2.5 US Needle biopsy 14 14 15 MRI, MRV Needle biopsy 15 16 18 US Laparoscopic biopsy 24 25 31 US No 4 5.5 4 US No 8 10 Undiagnosed N/A N/A 7.0 (average) 9.0 (average) 10.7 (average) AST/ALT, aspartate aminotransferase/alanine aminotransferase; HIDA, Hepatobiliary Iminodiacetic acid scan; MRCP, magnetic resonance cholangiopancreatography; MRI, magnetic resonance imaging; MRV, magnetic resonance venography; US, ultrasound.
