Oculopharyngeal Muscle Conditions - Medtick
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Oculopharyngeal Muscle Conditions

What is it?

Muscle disorder causing:

  • Progressive restriction of eye movement as the eye muscles  and throat become affected and then limb weakness around the shoulders and hips.
  • the condition can progress slowly and mainly affects middle to older age.

Cause

  • Maybe disruptions or changes (mutations) of the polyadenylate binding protein nuclear 1 (PABPN1) gene located on the long arm (q) of chromosome 14 (14q11.2-q13.
  • Family history
    • Autosomal dominant or recessive trait
    • Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease.
      • The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual.
      • The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.
    • Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.
      • If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
      • The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy.
      • The risk to have a child who is a carrier like the parents is 50% with each pregnancy.
      • The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

NORD

Symptoms

(Symptoms progress slowly)

Eyes and/or throat:

  • Drooping of the eyelids (ptosis)?
  • Trouble moving their eyes (ophthalmoplegia)?
  • Difficulty swallowing (dysphagia)?

Body

  • Upper arm/shoulder weakness?
  • Upper leg hips weakness?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, phone for an ambulance if have or develop:

This condition can lead to:

  • Muscle stiffness (myotonia)
  • Cataracts
  • Excessive sleeping or sleepiness
  • Behavioural and learning problems in children
  • Distal muscles affected i.e. hands and lower legs causing difficulty to grip objects and/or difficulty to jump, squat, run and/or walk respectively

This condition may have similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Oculopharyngeal Muscle Conditions in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

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