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Table 6 Characteristics of the entire group of MPS III patients, RP MPS III patients and SP MPS III patients at the first visit to the GP for an MPS III-related symptom

From: Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

First visit to general practitioner
  All MPS III RP MPS III SP MPS III
Number of patients 45 16 28
Age at 1st visit (months)
 Median 22 16 24
 Range 1 – 84 1 – 33 1 – 84
Symptom leading to 1st visit Nr. % Nr. % Nr. %
 Developmental delay 9 20% 2 13% 6 21%
 Upper airway problems 30 67% 12 75% 18 64%
 Diarrhea 1 2% 0 0% 1 4%
 Liver problems 1 2% 0 0% 1 4%
 Seizures 1 2% 0 0% 1 4%
 Inguinal/umbilical hernia 3 7% 2 13% 1 4%
Other MPS III-related symptoms at 1st presentation Nr. % Nr. % Nr. %
 Developmental delay 15 33% 3 19% 12 43%
 Behavioral problems 29 64% 10 63% 18 64%
 Dysmorphic features 27 60% 11 69% 15 54%
 Upper airway problems 10 22% 2 13% 7 25%
 Diarrhea 23 51% 11 69% 11 39%
 Sleeping disturbances 21 47% 9 56% 11 39%
 Inguinal/umbilical hernia 11 24% 8 50% 3 11%
  1. One of the SP MPS III patients did not visit the GP before receiving a referral to a medical specialist. One of the patients was considered too young to determine the phenotypic severity at the time of this study. The sums of the percentages of each item may not equal 100% because the percentages represent rounded values