Oculopharyngodistal myopathy
Alternate names[edit | edit source]
OPDM; Oculopharyngeal distal myopathy
Definition[edit | edit source]
Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms.
Cause[edit | edit source]
The specific cause is still unknown.
Inheritance[edit | edit source]
Inheritance may be autosomal dominant or autosomal recessive.
Signs and symptoms[edit | edit source]
- People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms.
- Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms.
- Many people have respiratory problems due to respiratory muscle weakness.
- In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs.
- As the disease progresses, other muscles may be affected.
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Nasal, dysarthic speech(Breathy speech)
- Progressive external ophthalmoplegia
- Progressive ptosis(Progressive drooping of upper eyelid)
- Weakness of facial musculature(Decreased facial muscle strength)
- Weight loss
30%-79% of people have these symptoms
- Abnormal morphology of musculature of pharynx
- Bowing of the vocal cords
- Difficulty in tongue movements
- Distal lower limb amyotrophy
- Distal upper limb amyotrophy
- High, narrow palate(Narrow, high-arched roof of mouth)
- Impaired oropharyngeal swallow response
- Myopathic facies
- Oral-pharyngeal dysphagia
- Progressive distal muscle weakness
- Recurrent aspiration pneumonia
- Respiratory insufficiency due to muscle weakness(Decreased lung function due to weak breathing muscles)
- Vocal cord paresis(Weakness of the vocal cords)
5%-29% of people have these symptoms
- Abnormality of masseter muscle
- Areflexia(Absent tendon reflexes)
- Difficulty walking(Difficulty in walking)
- Distal upper limb muscle weakness
- Elevated serum creatine kinase(Elevated blood creatine phosphokinase)
- Fatigable weakness of bulbar muscles
- Foot dorsiflexor weakness(Foot drop)
- Loss of ability to walk
- Progressive proximal muscle weakness
- Progressive sensorineural hearing impairment
- Restrictive ventilatory defect(Stiff lung or chest wall causing decreased lung volume)
- Sensorineural hearing impairment
- Tibialis muscle weakness
1%-4% of people have these symptoms
- Abnormality of orbicularis oris muscle
- Paraplegia(Leg paralysis)
- Proximal muscle weakness in upper limbs
Diagnosis[edit | edit source]
A blood exam may show an increased creatine kinase level and an abnormal EMG.
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Oculopharyngodistal myopathy is a rare disease.
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