Familial adult myoclonic epilepsy

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Familial adult myoclonic epilepsy

ORPHA:86814Disease

Also called ADCME · Autosomal dominant cortical myoclonus and epilepsy · BAFME · Benign adult familial myoclonus epilepsy · FAME · FCMTE · Familial cortical myoclonic tremor and epilepsy

What it is

Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.

Key facts

Prevalence
1-9 / 100 000 (Japan)
Age of onset
All ages
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

ADRA2BDisease-causing germline mutation(s) (gain of function)
CNTN2Disease-causing germline mutation(s)
CTNND2Disease-causing germline mutation(s)
MARCHF6Disease-causing germline mutation(s)
RAPGEF2Disease-causing germline mutation(s)
SAMD12Disease-causing germline mutation(s)
TNRC6ADisease-causing germline mutation(s)
YEATS2Disease-causing germline mutation(s)

ICD-10 codes

G40.3filed under a broader ICD-10 category — shared with 22 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

MONDO 0019448OMIM 601068OMIM 607876OMIM 613608OMIM 615127OMIM 615400OMIM 618074OMIM 618075UMLS C4273988

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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