What's facioscapulohumeral muscular dystrophy?
Facioscapulohumeral muscular dystrophy is one of the most common adult muscular dystrophies, caused by a contraction of the D4Z4 repeat array on chromosome 4, and typically presents with weakness of the face, shoulder blades, and lower limbs.
| Features mapped | 6 |
|---|---|
| Treatments mapped | 1 |
| Published sources | 6 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Foot dorsiflexor weakness
Weakness of the foot dorsiflexors, producing foot drop, occurs in facioscapulohumeral muscular dystrophy and is sometimes managed with orthotics or corrective surgery.
Scapular winging
Scapular winging (the shoulder blade standing away from the back because the muscles that anchor it are weak) occurs in facioscapulohumeral muscular dystrophy.
Respiratory insufficiency
Respiratory insufficiency can develop in facioscapulohumeral muscular dystrophy, more often in those with known risk factors and longer disease duration.
Weakness of facial musculature
Facial weakness (difficulty smiling, whistling, or fully closing the eyes) is a defining early feature of facioscapulohumeral muscular dystrophy.
Progressive muscle weakness
Facioscapulohumeral muscular dystrophy causes progressive, often asymmetric muscle weakness.
Chronic pain
Pain and fatigue are extramuscular manifestations frequently reported in facioscapulohumeral muscular dystrophy.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
scapular fixation surgery
Scapular fixation surgery is a surgical option to stabilize the shoulder blade when scapular winging limits arm use in facioscapulohumeral muscular dystrophy.
Used to help with: Scapular winging.
“Scapulothoracic arthrodesis (STA) has been proposed for the treatment of painful scapular winging in patients with facioscapulohumeral muscular dystrophy (FSHD).”
How to read the evidence labels
Where this comes from
This guide is built from 6 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.