Paroxysmal exercise-induced dystonia: Difference between revisions

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{{SI}}
{{Infobox medical condition
| name            = Paroxysmal exercise-induced dystonia
| image          = [[File:Autosomal_dominant_-_en.svg|200px]]
| caption        = [[Autosomal dominant]] is the most common mode of inheritance for this condition.
| field          = [[Neurology]]
| symptoms        = [[Dystonia]], [[muscle contractions]], [[involuntary movements]]
| onset          = Typically in [[childhood]] or [[adolescence]]
| duration        = Episodes last from minutes to hours
| causes          = [[Genetic mutation]]
| risks          = [[Family history]] of the condition
| diagnosis      = [[Clinical diagnosis]], [[genetic testing]]
| differential    = [[Epilepsy]], [[other movement disorders]]
| treatment      = [[Medications]] such as [[anticonvulsants]]
| prognosis      = Varies; often manageable with treatment
| frequency      = Rare
}}
'''Paroxysmal exercise-induced dystonia''' ('''PED''') is a rare, neurological disorder characterized by involuntary, sustained muscle contractions or spasms. These spasms are often brought on by physical exertion and can affect various parts of the body, most commonly the legs.
'''Paroxysmal exercise-induced dystonia''' ('''PED''') is a rare, neurological disorder characterized by involuntary, sustained muscle contractions or spasms. These spasms are often brought on by physical exertion and can affect various parts of the body, most commonly the legs.
== Symptoms ==
== Symptoms ==
The primary symptom of [[paroxysmal exercise-induced dystonia]] is the occurrence of dystonic movements or postures triggered by exercise. These movements can be painful and can significantly impair the individual's ability to perform the exercise. The severity and duration of the symptoms can vary widely among individuals, with some experiencing only mild, transient symptoms and others experiencing severe, prolonged episodes.
The primary symptom of [[paroxysmal exercise-induced dystonia]] is the occurrence of dystonic movements or postures triggered by exercise. These movements can be painful and can significantly impair the individual's ability to perform the exercise. The severity and duration of the symptoms can vary widely among individuals, with some experiencing only mild, transient symptoms and others experiencing severe, prolonged episodes.
== Causes ==
== Causes ==
The exact cause of PED is unknown, but it is believed to be related to a malfunction in the [[basal ganglia]], a group of structures in the brain involved in coordinating movement. Some cases of PED have been associated with mutations in the [[SLC2A1]] gene, which provides instructions for producing a protein that transports glucose into cells.
The exact cause of PED is unknown, but it is believed to be related to a malfunction in the [[basal ganglia]], a group of structures in the brain involved in coordinating movement. Some cases of PED have been associated with mutations in the [[SLC2A1]] gene, which provides instructions for producing a protein that transports glucose into cells.
== Diagnosis ==
== Diagnosis ==
Diagnosis of PED is based on the clinical presentation of the symptoms and their occurrence in relation to exercise. There are no specific diagnostic tests for PED, but other conditions that can cause similar symptoms, such as [[epilepsy]] or [[Parkinson's disease]], should be ruled out.
Diagnosis of PED is based on the clinical presentation of the symptoms and their occurrence in relation to exercise. There are no specific diagnostic tests for PED, but other conditions that can cause similar symptoms, such as [[epilepsy]] or [[Parkinson's disease]], should be ruled out.
== Treatment ==
== Treatment ==
There is currently no cure for PED, but treatment is aimed at managing the symptoms. This can include medications to reduce muscle spasms, physical therapy to improve mobility and strength, and avoidance of triggers, such as certain types of exercise.
There is currently no cure for PED, but treatment is aimed at managing the symptoms. This can include medications to reduce muscle spasms, physical therapy to improve mobility and strength, and avoidance of triggers, such as certain types of exercise.
== See also ==
== See also ==
* [[Dystonia]]
* [[Dystonia]]
* [[Movement disorders]]
* [[Movement disorders]]
* [[Neurological disorders]]
* [[Neurological disorders]]
[[Category:Neurological disorders]]
[[Category:Neurological disorders]]
[[Category:Movement disorders]]
[[Category:Movement disorders]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
{{medicine-stub}}
{{medicine-stub}}
<gallery>
File:Autosomal_dominant_-_en.svg
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Latest revision as of 22:12, 6 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

Paroxysmal exercise-induced dystonia
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Dystonia, muscle contractions, involuntary movements
Complications N/A
Onset Typically in childhood or adolescence
Duration Episodes last from minutes to hours
Types N/A
Causes Genetic mutation
Risks Family history of the condition
Diagnosis Clinical diagnosis, genetic testing
Differential diagnosis Epilepsy, other movement disorders
Prevention N/A
Treatment Medications such as anticonvulsants
Medication N/A
Prognosis Varies; often manageable with treatment
Frequency Rare
Deaths N/A


Paroxysmal exercise-induced dystonia (PED) is a rare, neurological disorder characterized by involuntary, sustained muscle contractions or spasms. These spasms are often brought on by physical exertion and can affect various parts of the body, most commonly the legs.

Symptoms[edit]

The primary symptom of paroxysmal exercise-induced dystonia is the occurrence of dystonic movements or postures triggered by exercise. These movements can be painful and can significantly impair the individual's ability to perform the exercise. The severity and duration of the symptoms can vary widely among individuals, with some experiencing only mild, transient symptoms and others experiencing severe, prolonged episodes.

Causes[edit]

The exact cause of PED is unknown, but it is believed to be related to a malfunction in the basal ganglia, a group of structures in the brain involved in coordinating movement. Some cases of PED have been associated with mutations in the SLC2A1 gene, which provides instructions for producing a protein that transports glucose into cells.

Diagnosis[edit]

Diagnosis of PED is based on the clinical presentation of the symptoms and their occurrence in relation to exercise. There are no specific diagnostic tests for PED, but other conditions that can cause similar symptoms, such as epilepsy or Parkinson's disease, should be ruled out.

Treatment[edit]

There is currently no cure for PED, but treatment is aimed at managing the symptoms. This can include medications to reduce muscle spasms, physical therapy to improve mobility and strength, and avoidance of triggers, such as certain types of exercise.

See also[edit]

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