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).
- NHS
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- Medscape
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- Pharmaceutical Journal
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- Healthline
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- Medical News Today
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- WebMD
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- Cleveland Clinic
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- Mayo Clinic
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- Drugs.com
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- National Organisation of Rare Diseases
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- Verywell Health
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- DR Axe
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