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progressive myoclonic epilepsy type 3 (EPM3) - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Brain and nerves	21	Brain shrinkage (cerebral atrophy), Truncal ataxia, Absent speech
Muscles	3	Brain shrinkage (cerebral atrophy), Shrinkage of the cerebellum (cerebellar atrophy), Damage to the optic nerve (optic atrophy)
Arms and legs	2	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material, Limb myoclonus
Eyes	2	Damage to the optic nerve (optic atrophy), Abnormality of vision
Head and neck	1	Microcephaly
Skin	1	Photosensitive myoclonic seizure

GeneReviews

Clinical Guidance

KCTD7-related progressive myoclonic epilepsy (KCTD7-PME) is a rare autosomal recessive disorder that manifests with early-onset multifocal fragmentary myoclonus often associated with seizures and progressive neurologic deterioration . Myoclonus may be spontaneous or induced by action or posture . Reported seizure types include generalized tonic-clonic, generalized atypical absence, generalized atonic, generalized tonic, generalized myoclonic-atonic, generalized with eyelid myoclonus, clonic, focal, febrile, and epileptic spasms . Progressive neurologic deterioration includes regression of developmental milestones, ataxia, and other movement disorders. Though early development may be normal in about one third of individuals, regression of milestones occurs in all followed by stabilization or progressive deterioration . To date, at least 95 individuals have been reported with biallelic pathogenic variants in KCTD7 . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. KCTD7-Related Progressive Myoclonic Epilepsy: Frequency of Select Features

Feature	% of Persons w/Feature	Comment
Epilepsy	98%	Myoclonic (95%-100%), generalized tonic-clonic (50%), atypical absence (20%), generalized atonic (18%), generalized tonic (15%), focal (15%), recurrent febrile seizures (10%)
Developmental delay /or intellectual disability	65%	Can be a presenting feature or early development can be normal followed by progressive neurologic deterioration
Developmental regression	95%	—
Speech-language difficulties	100%	—
Movement disorders	~30%	Dystonia (29%), choreoathetosis (29%), tremor (37%)
Ataxia	59%	—
Tone abnormalities	~40%	Spasticity (37%) hypotonia (41%)
Neurobehavioral issues	~20%	Autistic features (12%), behavioral issues (22%)
Ophthalmologic issues	~20%	Vision impairment (22%), bilateral optic disc pallor (10%), nystagmus (12%)
Microcephaly	37%	—
Neuroimaging abnormalities	60%	Cortical atrophy (40%), white matter abnormalities (20%), combined cortical cerebellar atrophy (20%), thin corpus callosum (10%), cerebellar atrophy (5%) Epilepsy.

Source: GeneReviews — "KCTD7-Related Progressive Myoclonic Epilepsy"

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

No consensus clinical diagnostic criteria for KCTD7-related progressive myoclonic epilepsy (KCTD7-PME) have been published to date.

Suggestive Findings

KCTD7-PME should be suspected/considered in probands with the following clinical, electroencephalographic, and neuroimaging findings and family history.

Clinical findings

Source: GeneReviews — "KCTD7-Related Progressive Myoclonic Epilepsy"

GeneReviews

Differential Diagnosis

The differential diagnosis of KCTD7-related progressive myoclonic epilepsy (KCTD7-PME) includes genetic disorders and acquired conditions. Table 4. KCTD7-Related Progressive Myoclonic Epilepsy: Differential Diagnosis

Gene(s)	Disorder	MOI	Features of Disorder
ASAH1	Spinal muscular atrophy w/PME (See ASAH1-Related Disorders.)	AR	Progressive myoclonic seizures other seizure types incl generalized absence, generalized atonic, generalized tonic-clonic; EEG shows slowing of background generalized spike wave discharges.; Early normal motor cognitive milestones

Genetic testing for KCTD7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for progressive myoclonic epilepsy type 3 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 progressive myoclonic epilepsy type 3. The disease remains an area of unmet medical need.

Gene therapy approaches for progressive myoclonic epilepsy type 3 have been reported in the published literature.

GeneReviews

Management Guidelines

No clinical practice guidelines for KCTD7-related progressive myoclonic epilepsy (KCTD7-PME) have been published. In the absence of established guidelines, the following recommendations are based on the authors' personal experience in managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To assess the disease extent and needs of an individual with KCTD7-PME, perform the evaluations summarized (if not performed already as part of the evaluation that led to the diagnosis).

Table 5.

KCTD7-Related Progressive Myoclonic Epilepsy: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

Constitutional

| Assess weight, height head size. |

Neurologic

| Neurologic eval | • Brain MRI

Consider EEG.

Ataxia /or musculoskeletal

| Orthopedics/ physical medicine rehab/ PT OT eval | To incl assessment of:

Gross motor fine motor skills
Mobility, ADL, need for adaptive devices
Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)

Speech language

| Assessment of speech language | Speech therapy as indicated

Development

| Developmental assessment | • To include motor, adaptive, cognitive, speech-language eval

Evaluate for early intervention/ special education

Neurobehavioral/

Psychiatric

| Neuropsychiatric eval | For persons age 12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD

Gastrointestinal/

Feeding

| Gastroenterology/ nutrition/ feeding team eval | • To include eval of aspirati...

Source: GeneReviews — "KCTD7-Related Progressive Myoclonic Epilepsy"

Clinical Trials

View trials for progressive myoclonic epilepsy type 3

Explore Trials

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.

No clinical trials have been registered for progressive myoclonic epilepsy type 3.

43 publications have been identified in PubMed for progressive myoclonic epilepsy type 3. Kisho has analyzed 28 by research type. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (21%), and Clinical Trial Publication (14%).

Research Type	Count	% of Total
Patient case studies	10	36%
Research summaries	6	21%
Clinical study results	4	14%
Laboratory research	4	14%
Testing and diagnosis research	2	7%
Disease patterns and progression	1	4%
New treatment approaches	1	4%

Recent Publications

Sendrowski D (2026). [PMID: 42194787](https://pubmed.ncbi.nlm.nih.gov/42194787/). *J Clin Med*. [Review / Meta-Analysis]
Sangeeth TA (2026). [PMID: 41564653](https://pubmed.ncbi.nlm.nih.gov/41564653/). *Seizure*. [Review / Meta-Analysis]
Ibrahim F (2026). [PMID: 29489177](https://pubmed.ncbi.nlm.nih.gov/29489177/). *Unknown Journal*. [Review / Meta-Analysis]
Fang Z (2026). [PMID: 41675236](https://pubmed.ncbi.nlm.nih.gov/41675236/). *Front Neurosci*. [Case Report / Case Series]
Greenberg BM (2026). [PMID: 41314141](https://pubmed.ncbi.nlm.nih.gov/41314141/). *EBioMedicine*. [Clinical Trial Publication]
Wilkes S (2026). [PMID: 41626409](https://pubmed.ncbi.nlm.nih.gov/41626409/). *Perspect Med Educ*. [Review / Meta-Analysis]
Duan BF (2026). [PMID: 41660755](https://pubmed.ncbi.nlm.nih.gov/41660755/). *J Magn Reson Imaging*. [Basic Science / Preclinical]
Mueller MM (2026). [PMID: 41607471](https://pubmed.ncbi.nlm.nih.gov/41607471/). *Orthop J Sports Med*. [Diagnostic / Biomarker]
Liu K (2026). [PMID: 41986128](https://pubmed.ncbi.nlm.nih.gov/41986128/). *Zhonghua Yi Xue Za Zhi*. [Case Report / Case Series]
Saini L (2026). [PMID: 42175818](https://pubmed.ncbi.nlm.nih.gov/42175818/). *J Child Neurol*. [Case Report / Case Series]

progressive myoclonic epilepsy type 3

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Neurologic

Ataxia /or musculoskeletal

Speech language

Development

Psychiatric

Feeding

Clinical Trials

Prognosis

Surveillance Guidelines

Feeding

Gastrointestinal

Respiratory

Neurologic

Development

Psychiatric

Musculoskeletal

Ophthalmologic involvement

Family/Community

Research Landscape

Recent Publications

Medical References

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