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 |
| Evidence |
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 |