Oculopharyngeal muscular dystrophy: Difference between revisions
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = Oculopharyngeal muscular dystrophy | |||
| image = [[File:Autosomal_dominant_-_en.svg|200px]] | |||
| caption = Oculopharyngeal muscular dystrophy is inherited in an [[autosomal dominant]] pattern. | |||
| synonyms = OPMD | |||
| pronounce = | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Dysphagia]], [[ptosis]], [[muscle weakness]] | |||
| onset = Typically after age 40 | |||
| duration = Progressive | |||
| types = | |||
| causes = Mutations in the [[PABPN1]] gene | |||
| risks = Family history | |||
| diagnosis = [[Genetic testing]], [[muscle biopsy]] | |||
| differential = [[Myasthenia gravis]], [[other muscular dystrophies]] | |||
| treatment = [[Swallowing therapy]], [[surgery]] for ptosis, [[dietary modifications]] | |||
| medication = | |||
| prognosis = Variable, generally slowly progressive | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
[[File:Lateral_orbit_nerves.jpg|Lateral view of orbital nerves|left|thumb]] | |||
[[File:Protein_PABPN1_PDB_3B4D.png|Structure of PABPN1 protein|left|thumb]] | |||
'''Oculopharyngeal muscular dystrophy''' ('''OPMD''') is a rare form of [[muscular dystrophy]] with symptoms generally starting when an individual is between 40 and 60 years old. It is characterized by slowly progressive [[ptosis]] (drooping of the eyelids) and [[dysphagia]] (difficulty swallowing). | '''Oculopharyngeal muscular dystrophy''' ('''OPMD''') is a rare form of [[muscular dystrophy]] with symptoms generally starting when an individual is between 40 and 60 years old. It is characterized by slowly progressive [[ptosis]] (drooping of the eyelids) and [[dysphagia]] (difficulty swallowing). | ||
== Symptoms == | == Symptoms == | ||
The first symptom of OPMD is usually ptosis, followed by dysphagia. As the disease progresses, weakness in the facial muscles may occur, along with weakness in the limbs. In some cases, individuals may also experience [[diplopia]] (double vision). | The first symptom of OPMD is usually ptosis, followed by dysphagia. As the disease progresses, weakness in the facial muscles may occur, along with weakness in the limbs. In some cases, individuals may also experience [[diplopia]] (double vision). | ||
== Causes == | == Causes == | ||
OPMD is caused by a mutation in the [[PABPN1]] gene. This gene provides instructions for making a protein that is involved in processing [[messenger RNA]] (mRNA), which serves as genetic blueprints for making proteins. | OPMD is caused by a mutation in the [[PABPN1]] gene. This gene provides instructions for making a protein that is involved in processing [[messenger RNA]] (mRNA), which serves as genetic blueprints for making proteins. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of OPMD is based on the clinical symptoms, a physical examination, and confirmed by genetic testing. Other tests that may be used include a [[muscle biopsy]], [[electromyography]] (EMG), and [[barium swallow]]. | Diagnosis of OPMD is based on the clinical symptoms, a physical examination, and confirmed by genetic testing. Other tests that may be used include a [[muscle biopsy]], [[electromyography]] (EMG), and [[barium swallow]]. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for OPMD. Treatment is focused on managing the symptoms and may include surgery for ptosis and swallowing difficulties. Physical therapy may also be beneficial. | There is currently no cure for OPMD. Treatment is focused on managing the symptoms and may include surgery for ptosis and swallowing difficulties. Physical therapy may also be beneficial. | ||
== Epidemiology == | == Epidemiology == | ||
OPMD is most common in individuals of French-Canadian descent, but it has been found in many different ethnic groups around the world. | OPMD is most common in individuals of French-Canadian descent, but it has been found in many different ethnic groups around the world. | ||
== See also == | == See also == | ||
* [[Muscular dystrophy]] | * [[Muscular dystrophy]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[PABPN1]] | * [[PABPN1]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Muscular dystrophy]] | [[Category:Muscular dystrophy]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:14, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Oculopharyngeal muscular dystrophy | |
|---|---|
| |
| Synonyms | OPMD |
| Pronounce | |
| Specialty | Neurology, Genetics |
| Symptoms | Dysphagia, ptosis, muscle weakness |
| Complications | N/A |
| Onset | Typically after age 40 |
| Duration | Progressive |
| Types | |
| Causes | Mutations in the PABPN1 gene |
| Risks | Family history |
| Diagnosis | Genetic testing, muscle biopsy |
| Differential diagnosis | Myasthenia gravis, other muscular dystrophies |
| Prevention | N/A |
| Treatment | Swallowing therapy, surgery for ptosis, dietary modifications |
| Medication | |
| Prognosis | Variable, generally slowly progressive |
| Frequency | Rare |
| Deaths | |
Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is between 40 and 60 years old. It is characterized by slowly progressive ptosis (drooping of the eyelids) and dysphagia (difficulty swallowing).
Symptoms[edit]
The first symptom of OPMD is usually ptosis, followed by dysphagia. As the disease progresses, weakness in the facial muscles may occur, along with weakness in the limbs. In some cases, individuals may also experience diplopia (double vision).
Causes[edit]
OPMD is caused by a mutation in the PABPN1 gene. This gene provides instructions for making a protein that is involved in processing messenger RNA (mRNA), which serves as genetic blueprints for making proteins.
Diagnosis[edit]
Diagnosis of OPMD is based on the clinical symptoms, a physical examination, and confirmed by genetic testing. Other tests that may be used include a muscle biopsy, electromyography (EMG), and barium swallow.
Treatment[edit]
There is currently no cure for OPMD. Treatment is focused on managing the symptoms and may include surgery for ptosis and swallowing difficulties. Physical therapy may also be beneficial.
Epidemiology[edit]
OPMD is most common in individuals of French-Canadian descent, but it has been found in many different ethnic groups around the world.
See also[edit]
References[edit]
<references />
