How is Unverricht-Lundborg syndrome inherited?

Unverricht-Lundborg syndrome follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How is Unverricht-Lundborg syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Unverricht-Lundborg syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Unverricht-Lundborg syndrome?

Unverricht-Lundborg syndrome can lead to complications such as increased frequency of seizures and worsening balance issues due to ataxia. These complications can make daily activities more challenging and may require additional support or adjustments in care. It's important to monitor these symptoms closely with a healthcare provider.

How does Unverricht-Lundborg syndrome affect daily life?

Living with Unverricht-Lundborg syndrome can be difficult due to symptoms like myoclonus and ataxia. These symptoms may affect a person's ability to perform everyday tasks, such as walking or holding objects. Families may need to make changes at home or seek support to help manage these challenges.

What is the prognosis for someone with Unverricht-Lundborg syndrome?

The prognosis for Unverricht-Lundborg syndrome is not fully understood, but cognitive decline tends to be mild over time. While the condition can lead to challenges, many individuals may have a stable quality of life with proper management. Regular follow-ups with healthcare providers can help monitor progress.

Are there any specialists recommended for managing Unverricht-Lundborg syndrome?

For managing Unverricht-Lundborg syndrome, it is often helpful to work with a neurologist who specializes in epilepsy and movement disorders. They can provide guidance on managing symptoms and adjusting treatment plans. Other specialists, such as physical therapists, may also be beneficial for addressing balance and coordination issues.

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Unverricht-Lundborg syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Features include very common findings: Bilateral tonic-clonic seizure, EEG with polyspike wave complexes, Sudden, brief involuntary muscle jerks (myoclonus), and Limb ataxia and others; and common findings: Mild intellectual disability, Dysarthria, Ataxia, and EEG with spike-wave complexes and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Bilateral tonic-clonic seizure, Mild intellectual disability, Dysarthria
Arms and legs	1	Limb ataxia
Skin	1	Cutaneous photosensitivity

GeneReviews

Clinical Guidance

In more than half of individuals with progressive myoclonic epilepsy type 1 (EPM1) the first manifestation is involuntary myoclonic jerks . The myoclonic jerks are action activated and stimulus sensitive and may be provoked by light, physical exertion, and stress. They occur predominantly in the proximal muscles of the extremities and are asynchronous; they may be focal or multifocal and may generalize to a series of myoclonic seizures or even status myoclonicus (continuous myoclonic jerks involving a semi-loss of consciousness). During the first five to ten years, the symptoms/myoclonic jerks characteristically progress and about one third of affected individuals become severely incapacitated (wheelchair bound).

Source: GeneReviews — "Progressive Myoclonic Epilepsy Type 1"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

The diagnosis of progressive myoclonic epilepsy type 1 (EPM1) is suspected in a previously healthy child age six to 15 years who manifests the following:

Involuntary, action-activated myoclonic jerks AND/OR generalized tonic-clonic seizures
Photosensitive, generalized spike-and-wave and polyspike-and-wave paroxysms on EEG
Abnormal EEG (always abnormal, even before the onset of manifestations). The background activity is labile and may be slower than normal. Photosensitivity is marked.
A gradual worsening of the neurologic manifestations (myoclonus and ataxia), difficulties running, playing sports, using stairs
Normal brain MRI

Establishing the Diagnosis

The diagnosis of EPM1 disease is established in a proband with suggestive findings and either biallelic abnormal CCC-CGC-C...

Source: GeneReviews — "Progressive Myoclonic Epilepsy Type 1"

GeneReviews

Differential Diagnosis

At the onset of progressive myoclonic epilepsy type 1 (EPM1), juvenile myoclonic epilepsy (JME) (OMIM PS254770) – which has a more favorable outcome – should be considered as a diagnostic alternative. Individuals with JME have a normal neurologic examination and undisturbed background of the EEG. Other disorders to consider in the differential diagnosis of EPM1 are summarized in . Table 2. Genes of Interest in the Differential Diagnosis of Progressive Myoclonic Epilepsy Type 1

Gene(s)	Disorder	MOI	Clinical Characteristics of Disorder
PME, Lafora type	AR	PME; Focal occipital seizures fragmentary, symmetric, or generalized myoclonus beginning in previously healthy individuals	Later onset (age 8-19 yrs); rapid disease progression; death ~10 yrs after diagnosis; Prior to the availability of molecular genetic testing, histologic findings on skin biopsy established the diagnosis.

Genetic testing for CSTB is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Unverricht-Lundborg syndrome has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Unverricht-Lundborg syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with progressive myoclonic epilepsy type 1 (EPM1), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with EPM1

System/Concern	Evaluation	Comment
Neurologic	Neurologic assessment of myoclonus, incl myoclonus at rest, w/action, in response to stimuli	Use standardized UMRS. Seizure type frequency
living	By physical medicine rehab/OT/PT	To assess gross motor fine motor skills, gait, ambulation, need for adaptive devices, need for ongoing PT/OT
Speech	For those w/dysarthria: speech language eval	Consider referral to speech language pathologist.
Cognitive	Neuropsychologist	Cognitive eval to establish baseline
Psychiatric	Psychiatrist	Evaluate as needed for depression supportive therapy. Development / School
performance	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Evaluation for special education Genetic
counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of EPM1 to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with EPM1 Manifestation/Concern	Treatment	Considerations/Other Myoclonus
Pharmacologic	Valproic acid	First drug of choice; diminishes myoclonus frequency of generalized seizures Clonazepam
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 function1; OT to optimize ADL (incl use of adaptive devices, e.g., weighted eating utensils dressing hooks); Home adaptations to prevent falls (e.g., grab bars, raised toilet seats) improve mobility (e.g.
Developmental delay / Intellectual disability	See .	—
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	OT = occupational therapy; PEG = percutaneous endoscopic gastrostomy; PT = physical therapy 1. 2. 3. 4. 5. 6.

Source: GeneReviews — "Progressive Myoclonic Epilepsy Type 1"

GeneReviews

Clinical Guidance

Phenytoin should be avoided, as it has been found to have aggravating side effects on the associated neurologic symptoms, and may even accelerate cerebellar degeneration . Sodium channel blockers (carbamazepine, oxcarbazepine, phenytoin) and GABAergic drugs (tiagabine, vigabatrin) as well as gabapentin and pregabalin should in general be avoided as they may aggravate myoclonus and myoclonic seizures .

Source: GeneReviews — "Progressive Myoclonic Epilepsy Type 1"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Progressive Myoclonic Epilepsy Type 1"

Clinical Trials

1 trial found

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with EPM1

System/Concern	Evaluation	Frequency
Myoclonus	Severity of myoclonus using UMRS	At least annually Seizures
Cerebellar involvement	Clinical eval	Per symptom progression Dysarthria
Activities of daily living	Clinically to evaluate rehab plan	At least annually School performance
Cognitive/Psychiatric	Evaluate mood, signs of psychosis, cognitive complaints to identify need for pharmacologic psychotherapeutic interventions.	Per symptom progression development of psychiatric symptoms
Family support resources	Interview	Annually BMI = body mass index; UMRS = Unified Myoclonus Rating Scale

Source: GeneReviews — "Progressive Myoclonic Epilepsy Type 1"

Phenotype severity distribution: 5 very common features, 7 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

58 publications have been identified in PubMed for Unverricht-Lundborg syndrome. Research spans Basic Science / Preclinical (28%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Laboratory research	16	28%
Research summaries	12	21%
Disease patterns and progression	10	17%
Patient case studies	7	12%
Clinical study results	6	10%
Testing and diagnosis research	5	9%
New treatment approaches	2	3%

Recent Publications

Ma J (2026). [PMID: 41998148](https://pubmed.ncbi.nlm.nih.gov/41998148/). *Curr Microbiol*. [Basic Science / Preclinical]
Cherian A (2026). [PMID: 41817056](https://pubmed.ncbi.nlm.nih.gov/41817056/). *Neurology India*. [Review / Meta-Analysis]
Hack J (2026). [PMID: 41848841](https://pubmed.ncbi.nlm.nih.gov/41848841/). *Physical chemistry chemical physics : PCCP*. [Basic Science / Preclinical]
Sunsundegui P (2026). [PMID: 42039672](https://pubmed.ncbi.nlm.nih.gov/42039672/). *Perspect Med Educ*. [Clinical Trial Publication]
Wilkes S (2026). [PMID: 41626409](https://pubmed.ncbi.nlm.nih.gov/41626409/). *Perspectives on medical education*. [Clinical Trial Publication]
Egger E (2026). [PMID: 41469120](https://pubmed.ncbi.nlm.nih.gov/41469120/). *Anticancer research*. [Diagnostic / Biomarker]
Niknam F (2026). [PMID: 40977559](https://pubmed.ncbi.nlm.nih.gov/40977559/). *Faraday discussions*. [Clinical Trial Publication]
Gunnar J (2026). [PMID: 41042579](https://pubmed.ncbi.nlm.nih.gov/41042579/). *Epileptic disorders : international epilepsy journal with videotape*. [Basic Science / Preclinical]
Dao DT (2026). [PMID: 41765445](https://pubmed.ncbi.nlm.nih.gov/41765445/). *Japanese journal of infectious diseases*. [Epidemiology / Natural History]
Prasad M (2026). [PMID: 41563589](https://pubmed.ncbi.nlm.nih.gov/41563589/). *Environmental monitoring and assessment*. [Epidemiology / Natural History]

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:254800

Orphanet

European rare disease database

Orphanet:308

GARD

Genetic and Rare Diseases Info Center

GARD:3876

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Unverricht-Lundborg syndrome

Unverricht-Lundborg syndrome, also known as ULD or progressive myoclonic epilepsy type 1, is a rare neurological disorder. It is a type of progressive myoclonic epilepsy that primarily features myoclonus (sudden, brief muscle jerks) which can be triggered by actions or certain stimuli along with tonic-clonic seizures. Additionally, people with this condition may experience ataxia, which affects balance and coordination. Although there can be many challenges, the cognitive decline seen in this condition tends to be mild over time. This summary reflects information from recognized sources that help explain the basic nature of Unverricht-Lundborg syndrome.

The common symptoms of Unverricht-Lundborg syndrome include action- and stimulus-sensitive myoclonus, which are sudden muscle jerks, and tonic-clonic seizures. People with this condition may also experience ataxia, which can affect balance and coordination.

Unverricht-Lundborg syndrome is associated with changes in the CSTB gene. This gene change is believed to contribute to the disorder, although detailed information on the inheritance patterns and other risk factors is limited. Associated genes include CSTB.

Kisho

Unverricht-Lundborg syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Unverricht-Lundborg syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Establishing the Diagnosis

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Unverricht-Lundborg syndrome?

What are the symptoms of Unverricht-Lundborg syndrome?

What causes Unverricht-Lundborg syndrome?

How is Unverricht-Lundborg syndrome inherited?

How is Unverricht-Lundborg syndrome diagnosed?

Are there treatments for Unverricht-Lundborg syndrome?

What complications can arise from Unverricht-Lundborg syndrome?

How does Unverricht-Lundborg syndrome affect daily life?

What is the prognosis for someone with Unverricht-Lundborg syndrome?

Are there any specialists recommended for managing Unverricht-Lundborg syndrome?