Progressive myoclonus epilepsy: Difference between revisions
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{{Infobox medical condition | |||
| name = Progressive myoclonus epilepsy | |||
| synonyms = [[PME]] | |||
| field = [[Neurology]] | |||
| symptoms = [[Myoclonus]], [[seizures]], [[ataxia]], [[dementia]] | |||
| onset = [[Childhood]] or [[adolescence]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic disorder]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical diagnosis]], [[genetic testing]] | |||
| differential = [[Epilepsy]], [[Lafora disease]], [[Unverricht-Lundborg disease]] | |||
| treatment = [[Anticonvulsants]], [[physical therapy]], [[occupational therapy]] | |||
| prognosis = [[Variable]], often [[progressive]] | |||
| frequency = Rare | |||
}} | |||
'''Progressive Myoclonus Epilepsy''' ('''PME''') is a group of diseases characterized by myoclonus, epilepsy, and progressive neurological decline. These diseases are rare. PME accounts for less than 1% of all cases of epilepsy. The two most common forms of PME are Unverricht-Lundborg disease and Lafora disease. | '''Progressive Myoclonus Epilepsy''' ('''PME''') is a group of diseases characterized by myoclonus, epilepsy, and progressive neurological decline. These diseases are rare. PME accounts for less than 1% of all cases of epilepsy. The two most common forms of PME are Unverricht-Lundborg disease and Lafora disease. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of PME include [[myoclonus]], [[epilepsy]], and a progressive neurological decline. Other symptoms may include ataxia, dementia, and visual loss. | The symptoms of PME include [[myoclonus]], [[epilepsy]], and a progressive neurological decline. Other symptoms may include ataxia, dementia, and visual loss. | ||
== Causes == | == Causes == | ||
PME is usually caused by genetic mutations and can be inherited in an autosomal recessive manner. The specific genes involved can vary depending on the specific type of PME. | PME is usually caused by genetic mutations and can be inherited in an autosomal recessive manner. The specific genes involved can vary depending on the specific type of PME. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of PME is based on clinical features, neurophysiological and imaging studies, and genetic testing. The diagnosis is often delayed due to the rarity of the condition and the variability of symptoms. | Diagnosis of PME is based on clinical features, neurophysiological and imaging studies, and genetic testing. The diagnosis is often delayed due to the rarity of the condition and the variability of symptoms. | ||
== Treatment == | == Treatment == | ||
Treatment for PME is symptomatic and supportive. Medications may be used to manage myoclonus and seizures. Physical therapy may be beneficial for some patients. | Treatment for PME is symptomatic and supportive. Medications may be used to manage myoclonus and seizures. Physical therapy may be beneficial for some patients. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with PME varies depending on the specific type of PME and the severity of symptoms. In general, the disease is progressive and may lead to disability and life-threatening complications. | The prognosis for individuals with PME varies depending on the specific type of PME and the severity of symptoms. In general, the disease is progressive and may lead to disability and life-threatening complications. | ||
== See also == | == See also == | ||
* [[Epilepsy]] | * [[Epilepsy]] | ||
* [[Myoclonus]] | * [[Myoclonus]] | ||
* [[Neurological disorder]] | * [[Neurological disorder]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Epilepsy]] | [[Category:Epilepsy]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 04:09, 4 April 2025
| Progressive myoclonus epilepsy | |
|---|---|
| Synonyms | PME |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Myoclonus, seizures, ataxia, dementia |
| Complications | N/A |
| Onset | Childhood or adolescence |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic disorder |
| Risks | Family history |
| Diagnosis | Clinical diagnosis, genetic testing |
| Differential diagnosis | Epilepsy, Lafora disease, Unverricht-Lundborg disease |
| Prevention | N/A |
| Treatment | Anticonvulsants, physical therapy, occupational therapy |
| Medication | N/A |
| Prognosis | Variable, often progressive |
| Frequency | Rare |
| Deaths | N/A |
Progressive Myoclonus Epilepsy (PME) is a group of diseases characterized by myoclonus, epilepsy, and progressive neurological decline. These diseases are rare. PME accounts for less than 1% of all cases of epilepsy. The two most common forms of PME are Unverricht-Lundborg disease and Lafora disease.
Symptoms[edit]
The symptoms of PME include myoclonus, epilepsy, and a progressive neurological decline. Other symptoms may include ataxia, dementia, and visual loss.
Causes[edit]
PME is usually caused by genetic mutations and can be inherited in an autosomal recessive manner. The specific genes involved can vary depending on the specific type of PME.
Diagnosis[edit]
Diagnosis of PME is based on clinical features, neurophysiological and imaging studies, and genetic testing. The diagnosis is often delayed due to the rarity of the condition and the variability of symptoms.
Treatment[edit]
Treatment for PME is symptomatic and supportive. Medications may be used to manage myoclonus and seizures. Physical therapy may be beneficial for some patients.
Prognosis[edit]
The prognosis for individuals with PME varies depending on the specific type of PME and the severity of symptoms. In general, the disease is progressive and may lead to disability and life-threatening complications.
See also[edit]
References[edit]
<references />
