progressive myoclonus epilepsy 4

Progressive Myoclonus Epilepsy (PME) Description

Progressive myoclonus epilepsy, also known as Lafora disease, is a rare brain disorder characterized by:

• Recurrent seizures (epilepsy): Seizures are a hallmark of PME, and they can be severe.
• Decline in intellectual function: As the condition progresses, individuals with PME often experience a decline in their cognitive abilities.

Age of Onset

The signs and symptoms of Lafora disease usually appear in late childhood or adolescence. Unfortunately, the disorder worsens over time.

[Citations: 4, 5]

Note: The description provided is based on search result [4] and additional information from other relevant sources.

Symptoms of Progressive Myoclonus Epilepsy

Progressive myoclonus epilepsy (PME) is a rare genetic disorder characterized by a range of symptoms that worsen over time. The signs and symptoms of PME can vary from person to person, but they often include:

• Myoclonic seizures: Sudden, brief muscle contractions or jerks that can affect any part of the body [9][10]
• Cognitive decline: Gradual loss of intellectual function, including memory, thinking ability, and problem-solving skills [13]
• Motor slowing: Decreased coordination, balance, and movement speed [7]
• Generalized tonic-clonic seizures: Seizures that affect the entire brain, causing convulsions and loss of consciousness [11][12]
• Visual/occipital seizures: Transient blindness or visual hallucinations [11]

In addition to these symptoms, people with PME may also experience:

• Ataxia: Difficulty coordinating movements and balance
• Dysarthria: Slurred speech
• Intentional tremor: Shaking or trembling of the hands or other body parts when trying to perform specific actions
• Emotional lability: Mood swings, depression, and anxiety

These symptoms can appear in late childhood or adolescence and worsen over time. Early diagnosis and treatment are crucial to manage the condition and slow down its progression.

References: [4] - Individuals with progressive myoclonic epilepsy type 1 have levels of cystatin B that are only 5 to 10 percent of normal, which is believed to cause the signs and symptoms of this disorder. [7] - Gradually, patients develop additional neurological symptoms including ataxia, dysarthria, intentional tremor, and decreased coordination. Depression is common. [9] - Myoclonic epilepsy causes the muscles in the body to contract. This type of seizure causes quick jerking movements. [10] - Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time. Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or [11] - Progressive myoclonus epilepsy, Lafora type (also known as Lafora disease [LD]) is characterized by focal occipital seizures presenting as transient blindness or visual hallucinations and fragmentary, symmetric, or generalized myoclonus beginning in previously healthy individuals at age eight to 19 years (peak 14-16 years). Generalized tonic-clonic seizures, atypical absence seizures, atonic [12] - Overview. The syndrome progressive myoclonus epilepsies is rare, and composes a group of etiologies that have in common 1) myoclonic seizures that are treatment-resistant, 2) progressive neurological and cognitive deterioration, and 3) slowing of the EEG background that 4) appears in an individual with prior normal development and cognition. Causes [13] - Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are cognitively mostly within the normal range, but show emotional lability and

Diagnostic Tests for Progressive Myoclonus Epilepsy

Progressive myoclonus epilepsy (PME) can be diagnosed through a combination of clinical findings and diagnostic tests.

• Clinical Findings: The diagnosis of PME is primarily based on the patient's medical history, physical examination, and neurological evaluation. A healthcare professional will look for symptoms such as myoclonic seizures, tonic-clonic seizures, ataxia, incoordination, intentional tremor, dysarthria, and emotional lability.
• Electroencephalogram (EEG): An EEG is a non-invasive test that records the electrical activity of the brain. It can help diagnose PME by showing abnormal electrical patterns in the brain.
• Molecular Genetic Testing: Molecular genetic testing is available for genes associated with EPM1, EPM2A, and other types of PME. This test can confirm a diagnosis of PME and identify the specific gene mutation responsible.

According to [4], diagnosis of progressive myoclonus epilepsy is made by clinical findings and EEG results. Molecular genetic testing is also available for genes associated with EPM1, EPM2A, and other types of PME.

References:

[4] - Learn about Progressive Myoclonus Epilepsy, including symptoms, causes, and treatments. [8] - Clinical diagnosis can be complemented with genetic testing. Classical EPMl is an autosomal recessive disorder associated with mutations in the CSTB gene ( ...

Treatment Options for Progressive Myoclonus Epilepsy

Progressive myoclonus epilepsy (PME) is a rare and devastating group of syndromes characterized by epileptic myoclonus, neurological regression, medically refractory epilepsy, and other signs and symptoms. While there is no current cure for PME, various treatment options are available to manage the condition.

Medications

The mainstays of medical therapy for myoclonic epilepsy include:

• Valproate: Considered the drug of choice for most cases of PME.
• Clonazepam: A benzodiazepine that can be effective in reducing myoclonic seizures.
• Levetiracetam: An antiepileptic medication that may be used as an add-on therapy.

Other Treatment Options

In addition to medications, comprehensive rehabilitation treatment and management of other symptoms are essential for people with PME. This includes:

• Physical therapy: To manage ataxia and other motor symptoms.
• Occupational therapy: To improve cognitive function and daily living skills.
• Speech therapy: To address communication difficulties.

Challenges in Treatment

Despite the availability of various treatment options, managing PME can be challenging due to its rarity and genetic heterogeneity. As a result, there is limited research on effective treatments, and medications are often chosen based on small open-label trials or extrapolation from other syndromes with myoclonic seizures.

References

• [4] There is no current cure for PME. People with PME require many seizure medications, comprehensive rehabilitation treatment, and treatment of other symptoms.
• [2] Valproic acid is the drug of choice, except for PMEs due to mitochondrial diseases. Levetiracetam and clonazepam should be considered as the first add-on therapy.
• [6] The mainstays of medical therapy for myoclonic epilepsy are valproic acid (sodium valproate), ethosuximide, or benzodiazepines (clonazepam).

Differential Diagnosis of Progressive Myoclonus Epilepsy (PME)

Progressive myoclonus epilepsy (PME) is a rare and sometimes fatal disorder that includes myoclonic seizures in combination with other neurologic dysfunction, such as ataxia, rigidity, cognitive impairment, or aphasia. The differential diagnosis for myoclonus is exceptionally broad, making it challenging to diagnose PME accurately.

Key Differential Diagnoses:

• Dravet syndrome: Expected to present in the first year of life
• Juvenile myoclonic epilepsy: May mimic progressive myoclonus epilepsies with worsening epilepsy if inappropriately treated with a medication that aggravates generalized seizures.
• Unverricht-Lundborg disease (ULD): An inherited neurodegenerative disorder characterized by onset at 6-15 years, stimulus-sensitive, action-activated myoclonus, epilepsy, and progressive neurological deterioration.

Other Differential Diagnoses to Consider:

• Progressive myoclonic ataxias: Conditions with prominent myoclonus and ataxia, but little in the way of epilepsy or progressive dementia.
• Coeliac disease: May present with myoclonus and ataxia
• Mitochondrial diseases: Some cases may present with myoclonus and ataxia

Important Considerations:

• Age at onset and concomitant signs and symptoms associated with myoclonic epilepsy are crucial in distinguishing between the different forms of PME.
• Differential diagnosis between EPM1 and EPM2 is easy, as EPM2 patients present frequent generalized seizures that are difficult to control with ASMs; moreover, "visual" seizures are often part of the clinical picture.

References:

• [8] Progressive myoclonic epilepsy associated with KCTD7 mutations has been reported in 19 patients from 12 families; these families had variable ethnic origin and showed a high rate of consanguinity (5/12).
• [10] Differential diagnoses Overview The syndrome progressive myoclonus epilepsies is rare, and composes a group of etiologies that have in common 1) myoclonic seizures that are treatment-resistant, 2) progressive neurological and cognitive deterioration , and 3) slowing of the EEG background that 4) appears in an individual with prior normal ...