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Table 1 Clinical characteristics of SMA patients

From: 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

ID Age Gender SMA type SMN1 mutation SMN2 copies Ambula-tory CHOP-INTEND (max. 64) HFSME (max. 66) RULM (max. 37)
SMA001 2 m M PRE Hom. Δ7/8 4 No 59  
SMA002 4 m M PRE Hom. Δ7/8 4 No 54
SMA003 7 m F PRE Hom. Δ7/8 5 No 64
SMA004 1y 2 m F PRE Hom. Δ7/8 5 No
SMA005 3 m F PRE Hom. Δ7, Het. Δ8 4 No 62
SMA006 2 m F 1 Hom. Δ7/8 2 No 22
SMA007 4 m F 1 Hom. Δ7/8 2 No 22
SMA008 3 m M 1 Hom. Δ7/8 2 No 13
SMA009 5 m M 1 Het. Δ7/8, (c.46delG) 2 No 20
SMA010 5 m M 1 Hom. Δ7 2 No 28
SMA011 9 m M 1 Hom. Δ7/8 3 No 32
SMA012 14y F 1 Hom. Δ7/8 2 No 18 1
SMA013 16y 10 m F 1 Hom. Δ7/8 3 No 10 5
SMA014 5y 5 m F 1 Hom. Δ7 3 No
SMA015 1y 2 m F 2 Hom. Δ7 3 No 10
SMA016 1y 5 m M 2 Hom. Δ7/8 3 No 44
SMA017 2y 6 m F 2 Hom. Δ7/8 3 No 59 12
SMA018 9y M 2 Hom. Δ7/8 3 No 26 6
SMA019 14y 8 m M 2 Hom. Δ7 3 No 7 21
SMA020 17y 8 m F 2 Hom. Δ7/8 3 No 17 25
SMA021 18y M 2 Hom. Δ7/8 3 No 0 6
SMA022 18y 11 m F 2 Hom. Δ7/8 3 No 2 15
SMA023 3y 2 m F 3a Hom. Δ7/8 3 Yes 36 11
SMA024 8y 3 m F 3a Hom. Δ7/8 3 No
SMA025 8y 9 m F 3a Hom. Δ7/8 3 No 22 21
SMA026 12y 8 m F 3a Hom. Δ7/8 3 No 31 23
SMA027 3y 5 m M 3b Hom. Δ7, Het. Δ8 2 Yes 50 20
SMA028 4y 4 m M 3b Hom. Δ7/8 4 Yes 44 21
SMA029 14y 1 m F 3b Hom. Δ7/8 4 Yes 54 33
  1. CHOP-INTEND, Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders; Δ/del, deletion; F, female; het, heterozygous; HFSME, Hammersmith Functional Motor Scale Expanded; hom, homozygous; M, male; m, months; PRE, pre-symptomatic; RULM, Revised Upper Limb Module; SMA, spinal muscular atrophy; y, years