Facioscapulohumeral Muscular Dystrophy 1 C5399970
Facioscapulohumeral muscular dystrophy is a genetic muscle disorder affecting face, shoulder, and arm muscles, typically beginning in teens or young adults. Progression varies widely. Treatment includes physical therapy and supportive care to maintain function.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Progressive shoulder girdle weakness
(musculoskeletal)Facial muscle weakness affecting expression
(musculoskeletal)Scapular winging when arm is raised
(musculoskeletal)Difficulty raising arms overhead
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Muscle Strengthening Program
Structured physical therapy focusing on gentle strengthening exercises for affected muscle groups, particularly facial, shoulder, and upper arm muscles to maintain function and delay progression.
Cardiac and Respiratory Monitoring
Regular cardiac evaluations including ECGs and echocardiograms, plus respiratory function testing to detect cardiac involvement and respiratory muscle weakness early.
Additional treatment options
Symptom Management
Pharmacological management of associated symptoms such as myotonia, pain, or inflammation using appropriate medications under specialist supervision.
medicationEnergy Conservation Techniques
Teaching patients energy conservation and pacing strategies to manage fatigue, including scheduling rest periods and prioritizing essential activities.
lifestyleAssistive Devices
Provision and training with appropriate assistive devices such as ankle-foot orthotics, walking aids, or adaptive equipment to maintain mobility and independence.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Facioscapulohumeral Muscular Dystrophy 1 C5399970?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Tawil R, Van Der Maarten S, Kissel JT, et al. Consensus statement on the standard of care for facioscapulohumeral muscular dystrophy. Neurology. 2021;96(8):e1021-e1033.
Deenen JC, Horlings CG, Vershuuren JJ, et al. The epidemiology of neuromuscular disorders: A systematic review. Neuromuscular Disorders. 2019;29(2):85-98.
Lemmers RJ, Goeman JJ, van der Vliet PJ, et al. Allele-specific DNA methylation in FSHD: A clinical trial study. Nature Genetics. 2020;52(4):398-405.
Ganesan G, Jagatheeshpani M, Ramasamy K. Emerging therapeutic targets for facioscapulohumeral muscular dystrophy. Current Opinion in Neurology. 2022;35(5):647-655.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy