Table 4. [Treatment of Manifestations in Individuals with EPM1]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Myoclonus	Pharmacologic	Valproic acid	First drug of choice; diminishes myoclonus & frequency of generalized seizures
Clonazepam	FDA-approved for treatment of myoclonic seizures; used as add-on therapy ¹
High-dose piracetam	Useful in treatment of myoclonus ²
Levetiracetam, brivaracetam, ³ perampanel ⁴	Appears effective for both myoclonus & generalized seizures
Topiramate & zonisamide	May be used as add-on therapies
N-acetylcysteine	Variable results ⁵
Vagus nerve stimulation	Reduces seizures & significantly improves cerebellar function on neurologic exam ⁶
Other	Avoid extreme stimuli (lights, noises, stress).
Seizures	Anti-seizure medication
Activities of daily living (ADL)	PT/OT	PT (balance exercises, gait training, muscle strengthening) to maintain mobility & function ¹ OT to optimize ADL (incl use of adaptive devices, e.g., weighted eating utensils & dressing hooks) Consider adaptive devices to maintain/improve independence in mobility (e.g., canes, walkers, motorized chairs). Home adaptations to prevent falls (e.g., grab bars, raised toilet seats) & improve mobility (e.g., ramps to accommodate motorized chairs)
Developmental delay / Intellectual disability	See Developmental Delay / Intellectual Disability Management Issues.
Dysarthria	Speech & language therapy	Consider alternative communication methods as needed (e.g., writing pads & digital devices).
Dysphagia	Feeding therapy programs to improve nutrition & dysphagia & reduce aspiration risk	Video esophagram may help define best food consistency. Education re strategies to mitigate aspiration PEG tube in advanced cases
Weight	Nutrition assessment	Consider nutritional & vitamin supplementation to meet dietary needs. Avoid obesity, which can exacerbate difficulties w/ambulation & mobility.
Family support & resources	Psychotherapy, peer support

Manifestation/Concern

Treatment

Considerations/Other

Myoclonus

Pharmacologic

Valproic acid

First drug of choice; diminishes myoclonus & frequency of generalized seizures

Clonazepam

FDA-approved for treatment of myoclonic seizures; used as add-on therapy ¹

High-dose piracetam

Useful in treatment of myoclonus ²

Levetiracetam, brivaracetam, ³ perampanel ⁴

Appears effective for both myoclonus & generalized seizures

Topiramate & zonisamide

May be used as add-on therapies

N-acetylcysteine

Variable results ⁵

Vagus nerve stimulation

Reduces seizures & significantly improves cerebellar function on neurologic exam ⁶

Other

Avoid extreme stimuli (lights, noises, stress).

Seizures

Anti-seizure medication

Activities of daily living (ADL)

PT/OT

PT (balance exercises, gait training, muscle strengthening) to maintain mobility & function ¹
OT to optimize ADL (incl use of adaptive devices, e.g., weighted eating utensils & dressing hooks)
Consider adaptive devices to maintain/improve independence in mobility (e.g., canes, walkers, motorized chairs).
Home adaptations to prevent falls (e.g., grab bars, raised toilet seats) & improve mobility (e.g., ramps to accommodate motorized chairs)

Developmental delay / Intellectual disability

See Developmental Delay / Intellectual Disability Management Issues.

Dysarthria

Speech & language therapy

Consider alternative communication methods as needed (e.g., writing pads & digital devices).

Dysphagia

Feeding therapy programs to improve nutrition & dysphagia & reduce aspiration risk

Video esophagram may help define best food consistency.
Education re strategies to mitigate aspiration
PEG tube in advanced cases

Weight

Nutrition assessment

Consider nutritional & vitamin supplementation to meet dietary needs.
Avoid obesity, which can exacerbate difficulties w/ambulation & mobility.

Family support & resources

Psychotherapy, peer support

From: Progressive Myoclonic Epilepsy Type 1

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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