facioscapulohumeral muscular dystrophy
MeSH: D020391ORPHA: 269
Overview
Muscular dystrophy that classically weakens the muscles of the face (facio), shoulder girdle (scapulo) and upper arm (humerus). Weakness usually is asymmetrical and develops in other areas of the body as well, such as the abdomen and shin.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with facioscapulohumeral muscular dystrophy, sourced from HPO and Orphanet clinical annotations.
Mask-like faciesSkeletal muscle atrophyElevated circulating creatine kinase concentrationHyperlordosisProgressive muscle weaknessScapular wingingSensorineural hearing impairmentKeratitisConjunctivitisPectus excavatumGait disturbanceProtuberant abdomenRestrictive ventilatory defectFrequent fallsScoliosisLimb-girdle muscle weaknessSteppage gaitEMG: myopathic abnormalitiesDecreased facial expressionStraight claviclesAbnormal retinal vascular morphologyDistal upper limb muscle weaknessAbdominal wall muscle weaknessFoot dorsiflexor weaknessComplete right bundle branch blockPectoralis amyotrophyChronic painNocturnal lagophthalmosWeakness of facial musculatureBeevor's signCamptocormiaRetinal detachmentVisual lossSeizureRespiratory insufficiencySupraventricular arrhythmiaSerous retinal detachment
Classification & Codes
MeSH Code
D020391Orphanet Code
ORPHA:269facioscapulohumeral muscular dystrophy
| MeSH | D020391 |
| Orphanet | ORPHA:269 |
| Treatments | 0 drug(s) |
| Symptoms on record | 37 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO