Living with Oculopharyngeal muscular dystrophy
A genetic muscle condition that usually begins after age 40 with droopy eyelids and trouble swallowing.
Understanding Oculopharyngeal muscular dystrophy
Weakness first shows as droopy eyelids (ptosis), then trouble swallowing, starting with dry food. Many people also have weakness of the tongue and of muscles in the shoulders, upper legs, and hips. The weakness slowly gets worse, and some people use a cane or walker. A rarer severe form can start before age 45 and also affect nerves and thinking.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Droopy upper eyelids (ptosis)
- Trouble swallowing (dysphagia)
- Weakness in the shoulder, hip and upper leg muscles
- Tongue weakness and wasting
- Weak eye muscles (ophthalmoplegia)
- Tiredness and pain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PABPN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PABPN1 gene cause this condition. GARD lists both autosomal dominant inheritance, where one changed copy can be enough, and autosomal recessive inheritance, where a child inherits a changed copy from each parent.
Also known as: muscular dystrophy, oculopharyngeal; oculopharyngeal dystrophy; opmd
Patient organizations
- Muscular Dystrophy AssociationOculopharyngeal muscular dystrophy · United States
- Ben's FriendsOculopharyngeal muscular dystrophy · United States
- OPMD AssociationOculopharyngeal muscular dystrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculopharyngeal muscular dystrophy.
Explore research for Oculopharyngeal muscular dystrophy
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