Supplementary Table S2 presents prevalence and median age of onset of MPS I signs and symptoms in evaluable patients in the MPS I Registry as of August 2013 by phenotype. Only symptoms recorded during the natural history period are included. Supplementary table S2 is presented in Microsoft Word.
Table S2: Median Age at First Symptoms Reported (Years) in Natural History Period by Body System and Phenotype
– All Evaluable Patientsa
Missing / Total
Number of patients enrolled / N / 601 / 227 / 127 / 32 / 987
Minimum age across symptoms / n / 583 / 214 / 121 / 28 / 946
Median / 0.5 / 1.5 / 4.0 / 0.7 / 0.6
General appearance
Coarse facial features / n / 519 / 165 / 61 / 28 / 773
Median / 0.9 / 3.4 / 8.7 / 1.3 / 1.1
Enlarged tongue / n / 248 / 87 / 27 / 17 / 379
Median / 1.2 / 4.0 / 8.6 / 1.5 / 1.7
Neurological (central nervous system [CNS])
Cognitive impairment / n / 279 / 71 / 12 / 6 / 368
Median / 1.2 / 3.8 / 9.2 / 1.1 / 1.4
Myelopathy / n / 51 / 25 / 15 / 2 / 93
Median / 1.8 / 13.4 / 22.2 / 10.6 / 5.3
Carpal tunnel syndrome / n / 47 / 63 / 65 / 1 / 176
Median / 2.3 / 7.4 / 12.5 / 14.2 / 7.4
Ophthalmologic
Corneal clouding / n / 426 / 155 / 89 / 18 / 688
Median / 1.1 / 4.4 / 10.5 / 1.4 / 1.7
Glaucoma / n / 29 / 12 / 16 / 2 / 59
Median / 1.7 / 8.1 / 24.9 / 5.2 / 5.6
Cardiovascular
Cardiomyopathy / n / 90 / 32 / 13 / 4 / 139
Median / 1.5 / 7.1 / 12.5 / 1.3 / 2.6
Congestive heart failure / n / 19 / 10 / 10 / 1 / 40
Median / 1.1 / 15.1 / 18.4 / 1.6 / 6.3
Cor pulmonale / n / 2 / 5 / 1 / 0 / 8
Median / 3.0 / 15.5 / 7.2 / 10.9
Cardiac valve abnormalities / n / 294 / 134 / 86 / 12 / 526
Median / 1.3 / 5.7 / 11.7 / 4.2 / 3.1
Respiratory
Enlarged tonsils / n / 172 / 75 / 28 / 15 / 290
Median / 1.5 / 4.1 / 6.7 / 2.0 / 2.5
Reactive airway disease / n / 89 / 29 / 17 / 1 / 136
Median / 0.9 / 4.7 / 6.8 / 1.3 / 1.2
Sleep disturbances/snoring / n / 310 / 111 / 34 / 15 / 470
Median / 1.2 / 4.0 / 8.7 / 1.2 / 1.5
Gastrointestinal
Hepatomegaly / n / 421 / 151 / 61 / 17 / 650
Median / 1.1 / 4.4 / 9.4 / 1.4 / 1.5
Splenomegaly / n / 306 / 107 / 35 / 13 / 461
Median / 1.2 / 4.6 / 11.0 / 1.4 / 1.7
Hernia / n / 354 / 136 / 68 / 19 / 577
Median / 0.8 / 3.2 / 4.6 / 1.9 / 1.1
Musculoskeletal
Dysostosis multiplex / n / 262 / 85 / 45 / 11 / 403
Median / 1.1 / 4.2 / 8.0 / 1.2 / 1.6
Scoliosis / n / 146 / 55 / 22 / 6 / 229
Median / 1.4 / 6.7 / 12.3 / 1.2 / 2.1
Kyphosis/gibbus / n / 421 / 76 / 27 / 15 / 539
Median / 1.0 / 4.6 / 7.9 / 1.1 / 1.1
Hip dysplasia / n / 143 / 58 / 32 / 6 / 239
Median / 1.2 / 6.2 / 8.4 / 1.4 / 2.1
Genu valgum / n / 76 / 51 / 29 / 3 / 159
Median / 1.8 / 5.2 / 9.3 / 9.9 / 3.7
Pes cavus / n / 46 / 18 / 19 / 2 / 85
Median / 1.0 / 5.6 / 7.7 / 9.0 / 2.6
Joint contractures / n / 228 / 130 / 88 / 19 / 465
Median / 1.6 / 4.2 / 7.6 / 1.6 / 2.8
Toe-walking / n / 44 / 43 / 26 / 4 / 117
Median / 2.0 / 6.0 / 5.9 / 6.2 / 4.8
a The natural history period is defined as the time from birth up to the last follow-up recorded in the Registry for patients who had never received treatment (either enzyme replacement therapy or hematopoietic stem cell transplantation), and up to first treatment for those who had. Symptom frequencies were calculated as the number of patients with the symptom present, divided by all patients in each region and/or phenotype. Thus, reported frequencies may underestimate the true frequency for each symptom.Median ages of symptom onset were based on the number of patients with each symptom reported.