Oculopharyngodistal myopathy

Alternate names

OPDM; Oculopharyngeal distal myopathy

Definition

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

The specific cause is still unknown.

Inheritance

Inheritance may be autosomal dominant or autosomal recessive.

Signs and symptoms

• 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

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

A blood exam may show an increased creatine kinase level and an abnormal EMG.

NIH genetic and rare disease info

• NIH info on Oculopharyngodistal myopathy

Oculopharyngodistal myopathy is a rare disease.

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  Diagram illustrating autosomal dominant inheritance pattern.