Bone Health in Facioscapulohumeral Muscular Dystrophy



Status:Active, not recruiting
Conditions:Neurology
Therapuetic Areas:Neurology
Healthy:No
Age Range:18 - 100
Updated:10/14/2017
Start Date:July 2014
End Date:August 2016

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Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-sectional Study

This is a cross-sectional single visit study to determine bone health in individuals with
FSHD.

Bone health will be assessed using 1) a DEXA scan to measure bone mineral density and lean
body mass, and 2) blood tests of biomarkers of bone resorption and formation. These
procedures will be correlated to measures of muscle strength testing and timed function tests
to determine fracture risk in FSHD individuals considering age, gender, muscle strength and
FSHD allele size.

Inclusion Criteria:

- Genetic diagnosis of FSHD including chromosome 4 deletion and haplotype

- Age > 18 years

- Ability to provide written informed consent for participation in the study

- Ability to participate in the DEXA scan

Exclusion Criteria:

- Unwillingness or inability to comply with the requirements of this protocol (in the
opinion of the PI) including, but not limited to, the presence of any condition
(physical, mental or social) that precludes the participant from comfortably and
safely obtaining a DEXA scan, phlebotomy, or neurological examination
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