Dyne Medical Central

Facioscapulohumeral muscular dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited muscle disorders of adulthood.1 It primarily causes progressive muscle weakness, often beginning in the face, shoulders, and upper arms, but it can also affect other muscle groups.2 FSHD is caused by aberrant expression of the DUX4 gene in skeletal muscle, leading to inflammation, cell death, and muscle atrophy.3,4

Read on to find out more.

FSHD Disease Background

  • FSHD disease background module

    An overview of FSHD presentation, disease burden, and genetic etiology.

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SV95C: A Real-World Measure Of Mobility For Neuromuscular Diseases

These resources provide more information on the Stride Velocity 95th Centile (SV95C) mobility test, a digital endpoint of ambulatory performance in patients’ normal daily environment.

SV95C module

Overview of SV95C and its use in clinical trials.

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References:

1. Tihaya MS, et al. Nature Rev Neurol. 2023;19(2):91–108; 2. Mul K, et al. Pract Neurol. 2016;16(3):201–207; 3. Mocciaro E, et al. Cells. 2021;10(12):3322; 4. Lim KRQ, et al. Int J Mol Sci. 2020;21(3):729.