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Start free with EleplanFacioscapulohumeral dystrophy
ORPHA:269Disease
Also called FSH dystrophy · FSHD · Facioscapulohumeral muscular dystrophy · Facioscapulohumeral myopathy · Landouzy-Dejerine dystrophy · Landouzy-Dejerine myopathy
What it is
A rare neuromuscular disease characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- All ages
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
6Common30–79%
25- Abdominal wall muscle weakness
- Abnormal retinal vascular morphology
- Beevor's sign
- Camptocormia
- Chronic pain
- Conjunctivitis
- Decreased facial expression
- Distal upper limb muscle weakness
- EMG: myopathic abnormalities
- Foot dorsiflexor weakness
- Frequent falls
- Gait disturbance
- Keratitis
- Limb-girdle muscle weakness
- Nocturnal lagophthalmos
- Pectoralis amyotrophy
- Pectus excavatum
- Protuberant abdomen
- Restrictive ventilatory defect
- Right bundle branch block
- Scoliosis
- Sensorineural hearing impairment
- Steppage gait
- Straight clavicles
- Weakness of facial musculature
Sometimes5–29%
6These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
1 modifying gene — variants that can change how the disease behaves, not cause it
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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