Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
Cooperative International Neuromuscular Research Group
With
FSH Society, Inc.
FSHD Global Research Foundation
Muscular Dystrophy Canada
aTyr Pharma, Inc.
Age
Any age
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
Affected participants must have a clinical diagnosis of FSHD, including the presence of all of the following features based on review of medical records and/or direct examination:
Onset of symptoms involving the facial or shoulder girdle muscles
Autosomal dominant inheritance in familial cases
Contraction of the D4Z4 repeat array from 1-10 (10 - 38 kb) copies in the 4q35 subtelomeric region, based on established molecular genetic techniques
You may not be if
Symptomatic cardiomyopathy or severe cardiac arrhythmia which may limit the ability to complete the study protocol
Maternal/mitochondrial mode of inheritance
Evidence of an alternative diagnosis based on muscle biopsy or other available investigations
Clareo Health | A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD
