Goal 2: Reduce Human Disease

What causes variation in severity of skeletal muscle, lung, pulmonary and heart system symptoms in FSHD muscular dystrophy

Loss of diaphragm function and impaired respiration is a leading driver of morbidity and mortality in the adult muscular dystrophies such as facioscapulohumeral muscular dystrophy, and therefore requires additional study

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Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Compelling Question (CQ)

Details on the impact of addressing this CQ or CC :

Muscular dystrophies comprise a heterogeneous group of genetic diseases often characterized by multi-systemic effects and distinct patterns of muscle involvement. While a characteristic pattern of muscle weakness has traditionally been used to define the different subtypes of muscular dystrophy, the cause for the regional distribution of muscle weakness, often with sparing of specific muscle groups, has largely remained unresolved. Moreover, many muscular dystrophies such as the most common form facioscapulohumeral muscular dystrophy, show noticeable variation in disease onset and progression, both between as well as within families. Involvement of the diaphragm and muscles of respiration often proceeds at a rate different from other striated muscles. Loss of diaphragm function and impaired respiration is a leading driver of morbidity and mortality in the muscle diseases, and therefore requires additional study in adult muscular dystrophy.

Feasibility and challenges of addressing this CQ or CC :

Studies in mice and humans have provided some evidence for genetic modifiers of disease onset, presentation and progression, but a comprehensive explanation for the observed differences in skeletal muscle, lung, pulmonary and heart system involvement and disease progression is currently lacking. Disease penetrance may be affected by genetic background or gene-environment interactions. Future studies on the identification and validation of such factors, both genetic and non-genetic (off target effects of drugs, diet, exercise), may provide insight into strategies that delay disease onset, prevent off-target effects of drugs and improve quality of life.

Name of idea submitter and other team members who worked on this idea : FSH Society

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Idea No. 392