Living with Oculopharyngodistal myopathy
A rare inherited adult-onset muscle disease affecting the eyelids, throat, and the muscles of the lower legs and arms.
Understanding Oculopharyngodistal myopathy
People develop eyelid drooping, trouble swallowing, a hoarse and nasal voice, and weakness and muscle wasting in the legs and arms. Many have breathing problems from weak breathing muscles. In rare cases there is hearing loss. A blood test may show raised creatine kinase and an EMG may be abnormal. GARD lists onset as from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Progressive drooping of the upper eyelids (ptosis)
- Trouble swallowing (dysphagia)
- Weakness in the lower legs and forearms
- Weak eye muscles (progressive external ophthalmoplegia)
- Hoarse, nasal voice
- Breathing problems from weak muscles
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
- 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
GARD says the specific cause is still unknown. It may be inherited in an autosomal dominant or autosomal recessive way.
Also known as: oculopharyngeal distal myopathy; opdm; opdm - oculopharyngodistal myopathy
Patient organizations
- Muscular Dystrophy AssociationOculopharyngodistal myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculopharyngodistal myopathy.
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