Facioscapulohumeral Muscular Dystrophy
Conditions
Keywords
FSHD, muscular dystrophy
Brief summary
The purpose of this study is to make a standardized and scalable Rasch-built clinical severity scale to help in finding genetic and environmental modifiers of disease in Facioscapulohumeral muscular dystrophy (FSHD).
Interventions
None listed
Sponsors
National Institutes of Health (NIH)
University of Kansas Medical Center
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Genetic confirmation of FSHD (either FSHD-1 or FSHD-2)
Exclusion criteria
* Do not understand English * Unable to provide informed consent
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| FSHD Clinical Severity Scale | 1 day | Measure severity of FSHD. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Vignos scale | 1 day | Measures lower extremity function. Scores on the scale range from 1-10. A score of 1 means the person can walk and climb stairs without assistance. A score of 10 means the person is bedridden. |
| Iowa Oral Performance Instrument (IOPI) | 1 day | IOPI measures lip and tongue strength by measuring the amount of pressure a person can exert on the tool. |
| Manual muscle testing | 1 day | Measure person's range of motion. Scored on a scale with range of 0-5. Score of 0 means no movement. Score of 5 means the person has a full range of movement. |
| Brooks scale | 1 day | Measures upper extremity function.Scores on the scale range from 1-6. A score of 1 means the person can elevate their arms above their head while arms remain straight. 6 means the person cannot elevate their arms to their mouth and do not have useful function of their hands. |
| Functional testing | 1 day | — |
| Reparatory function testing | 1 day | — |
| Patient-reported outcome | 1 day | — |
| Quantitative strength testing | 1 day | — |
Countries
United States
Outcome results
None listed