Priority = 10 from the Rare Musculoskeletal Diseases in Adulthood PSP

UNCERTAINTY: How and why do people with rare metabolic bone disorders have different symptoms, even when they have the same genetic mutation? (JLA PSP Priority =10)
Overall ranking Joint 10th
JLA question ID 0076/=10
Explanatory note Not available for this PSP

None identified

Health Research Classification System category Musculoskeletal
Extra information provided by this PSP
Original uncertainty examples What impacts upon the disease spectrum in terms of symptoms? Why are some patients significantly more symptomatic than others with similar levels of bone disease? ~ Why do I have OI and my identical twin doesn't? ~ Why does it sometimes take several years to diagnose e.g. why doesn't it "show up" sometimes until you're 12-18 mths of age? ~ Why do some people stop having fractures after puberty and others go on to continually fracture? 
Submitted by Individual survey submissions categorised by Health or Social Care Professionals, Organisations representing people with rare musculoskeletal diseases, people with rare musculoskeletal diseases, relatives/carers/friends, Other.  For full details of the type of submitter for each individual question, please see the spreadsheet of data held on the JLA website. 
PSP information
PSP unique ID 0076
PSP name Rare Musculoskeletal Diseases in Adulthood
Total number of uncertainties identified by this PSP. 39  (To see a full list of all uncertainties identified, please see the detailed spreadsheet held on the JLA website)
Date of priority setting workshop 18 June 2018