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Facioscapulohumeral muscular dystrophy (FSHD) is a progressive genetic disorder characterized by muscle weakness that typically begins in the face, shoulders, and upper arms. It is one of the more common types of muscular dystrophy.
read more about facioscapulohumeral muscular dystrophy ...FSHD is caused by a genetic deletion on chromosome 4, leading to the misexpression of the DUX4 gene. This gene causes toxic effects in muscle cells. The disorder is typically inherited in an autosomal dominant pattern.
Symptoms start in the face and shoulders with difficulty closing the eyes tightly, weak smile, and shoulder blades that wing outward. Raising the arms above shoulder level is hard. Weakness is asymmetric and can extend to the trunk and legs. Hearing loss and retinal changes occur in a subset of patients.
FSHD can directly impact eye health by causing chronic dry eyes and severe corneal exposure. Weakness in the orbicularis oculi muscle (which controls blinking) prevents the eye from closing completely during sleep, causing dryness and irritation.
Diagnosis involves a physical exam and genetic testing to confirm the DUX4 gene mutation. Management focuses on maintaining muscle function through physical therapy, pain management, and sometimes surgery to stabilize the shoulder blades.
Ophthalmology plays a crucial role in managing the ocular symptoms. Patients require specialized interventions, such as frequent lubricating eye drops and sometimes taping the eyelids shut at night to prevent severe corneal exposure and dryness.
No, FSHD typically does not affect lifespan, but it can significantly affect mobility and quality of life.
No, one of the distinguishing features of FSHD is that the weakness is often highly asymmetrical (worse on one side).
No, the progression is typically slow, with symptoms appearing in the teens or 20s.
Consult a specialist if you have "scapular winging", where your shoulder blades stick out significantly. Patients with FSHD should have a baseline hearing test and retinal exam, as "Coats' Disease" (abnormal retinal vessels) can occasionally be associated with this genetic mutation.
GeneReviews. FSHD (ncbi.nlm.nih.gov). 2025.
MedlinePlus Genetics. FSHD Overview (medlineplus.gov). 2014.
StatPearls. FSHD Pathology (ncbi.nlm.nih.gov). 2023.
Orphanet. Facioscapulohumeral Dystrophy (orpha.net). 2025.