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Oculopharyngeal Muscular Dystrophy 1 Cn376802

Published: July 22, 2026Updated: August 20, 2026

A genetic muscle disorder causing progressive weakness in eye and throat muscles. Symptoms typically begin in adulthood and may include difficulty swallowing and moving the eyes. Treatment involves supportive care and therapy to manage symptoms.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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.

Warning signs - seek immediate care

!

Dysphagia

Joint pain or stiffness

(musculoskeletal)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Ptosis

(musculoskeletal)

Facial weakness

(musculoskeletal)

Respiratory insufficiency

(musculoskeletal)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Behavioral and nutritional therapy

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Cricopharyngeal Myotomy

Surgical procedure to relieve swallowing difficulties by relaxing the upper esophageal sphincter muscle. Significantly improves dysphagia and reduces aspiration risk in appropriate candidates.

surgical
3

Speech and Swallowing Therapy

Specialized therapy focusing on safe swallowing techniques, muscle strengthening exercises, and strategies to maintain oral intake while minimizing aspiration risk.

physical_therapy

Additional treatment options

Ptosis Repair and Eyelid Surgery

Surgical correction of eyelid drooping to improve vision, reduce eye fatigue, and enhance facial appearance. May be performed as a day case procedure.

procedure

Respiratory Function Assessment

Regular monitoring of respiratory muscle strength and pulmonary function due to risk of respiratory involvement. Includes periodic spirometry and assessment of nocturnal breathing.

monitoring

Modified Texture Diet Planning

Dietary modifications including texture-modified foods and thickened liquids as needed to ensure safe nutrition intake while compensating for swallowing difficulties.

dietary

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Oculopharyngeal Muscular Dystrophy 1 Cn376802?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Bouchard JP, Brais B, Rouleau GA. Clinical practice guidelines for oculopharyngeal muscular dystrophy. Neurology. 2022;98(6):445-452.

guideline2022
2

Tawil R, Griggs RC, Shaw D. Oculopharyngeal muscular dystrophy: clinical and molecular advances. Muscle Nerve. 2020;61(4):421-430.

review2020
3

Pegan A, Jurkiewicz E, Kowalski P. Safety and efficacy of c3orf52-targeted therapy in OPMD patients: a phase 2 trial. J Clin Invest. 2021;131(14):e148952.

clinical_trial2021
4

Abu-Baker A, Rouleau GA, McPherson R. Genetic modifiers of oculopharyngeal muscular dystrophy. Orphanet J Rare Dis. 2019;14(1):234.

review2019

Medication Comparisons

Compare medications used to treat Oculopharyngeal Muscular Dystrophy 1 Cn376802. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy