Our webinar with Dr. Tina Duong remains timely and important for families with FSHD. In it, she focuses on individuals with early-onset FSHD, meaning those who develop symptoms in their first decade of life. With early-onset FSHD, she says, research has found that “the disease is more severe, there may be faster progression, and there are more extramuscular symptoms”–symptoms that affect systems beyond muscle. These can include they eyes, hearing, heart, breathing, and the brain.
Some key findings from research on early-onset individuals include:
- Hearing loss in 40%
- Impaired breathing function in 8-11%
- Abnormal blood vessels in retina in 37%, leading to vision loss in 6%
- Cognitive delay in 15%
- Seizure disorder in 8%
- Abnormal electrocardiogram (EKG) in 9%
What does this mean for patients?
Dr. Duong says the approach to medical care for early-onset FSHD should be different than that for later-onset FSHD. Screening for possible issues and intervening early will lead to better outcomes. A child (or adult) with early-onset FSHD should have a care team that includes a neurologist (for muscles and brain), audiologist (hearing), ophthalmologist (eyes), pulmonologist (breathing), cardiologist (heart), physical therapist and occupational therapist. The diagnosis should be shared with the child’s school. Many school activities and sports can be adapted to the child’s needs.
Our Early-Onset Parents Roundtable meets over Zoom on the third Tuesday of each month. It’s a great community sharing information, providing support, and advocating for including early-onset patients in research and clinical trials. Register here to join the group.
- A Guide for Schools (download PDF)
- Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review
Tai-Heng Chen, Yan-Zhang Wu, and Yung-Hao Tseng. Int J Mol Sci. 2020 Oct 21;21(20):7783. doi: 10.3390/ijms21207783. PMID: 33096728; PMCID: PMC7589635.
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