Overview
Familial cortical myoclonus is a rare inherited neurological condition characterized by involuntary, brief, shock-like muscle jerks (called myoclonus) that originate from the outer layer of the brain known as the cerebral cortex. This condition runs in families and typically begins in adulthood. The myoclonus can affect the hands, arms, and sometimes other parts of the body, and it is often triggered or worsened by voluntary movements (action myoclonus) or by sensory stimulation. Some forms may also be associated with tremor, which can resemble essential tremor, and in some cases mild seizures may occur. The condition is sometimes referred to as familial cortical myoclonic tremor with epilepsy (FCMTE) or benign adult familial myoclonic epilepsy (BAFME), depending on the specific genetic cause and clinical features. The severity of symptoms can vary widely, even within the same family. Some people experience only mild trembling of the fingers, while others may have more noticeable jerking movements that interfere with fine motor tasks like writing or eating. The condition tends to progress slowly over many years. Treatment is mainly symptomatic, focusing on reducing the frequency and severity of myoclonus and managing any associated seizures. Anti-epileptic medications such as valproate, clonazepam, and levetiracetam are commonly used and can be effective in controlling symptoms for many patients. There is currently no cure, but the condition is generally considered to have a relatively benign course compared to many other forms of progressive myoclonus.
Key symptoms:
Involuntary muscle jerks (myoclonus), especially in the hands and armsFine tremor of the fingers that may look like essential tremorWorsening of jerks during voluntary movements like writing or reachingJerks triggered by touch, sound, or other sensory stimulationOccasional generalized seizures (tonic-clonic seizures)Difficulty with fine motor tasks such as writing or buttoning clothesMild unsteadiness or clumsinessSymptoms that slowly worsen over yearsJerks that may increase with stress or fatigueMild difficulty with coordination
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Familial cortical myoclonus.
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Specialists
View all specialists →No specialists are currently listed for Familial cortical myoclonus.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial cortical myoclonus.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific type of familial cortical myoclonus do I have, and has a genetic cause been identified?,What medications are best for controlling my myoclonus, and what side effects should I watch for?,Are there any medications or substances I should avoid that could make my myoclonus worse?,How likely is this condition to progress, and what should I expect over the next 5 to 10 years?,Should my family members be tested for this condition, and what does genetic counseling involve?,Are there any clinical trials or new treatments being studied for this condition?,Is it safe for me to drive, and are there any activities I should limit?
Common questions about Familial cortical myoclonus
What is Familial cortical myoclonus?
Familial cortical myoclonus is a rare inherited neurological condition characterized by involuntary, brief, shock-like muscle jerks (called myoclonus) that originate from the outer layer of the brain known as the cerebral cortex. This condition runs in families and typically begins in adulthood. The myoclonus can affect the hands, arms, and sometimes other parts of the body, and it is often triggered or worsened by voluntary movements (action myoclonus) or by sensory stimulation. Some forms may also be associated with tremor, which can resemble essential tremor, and in some cases mild seizures
How is Familial cortical myoclonus inherited?
Familial cortical myoclonus follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial cortical myoclonus typically begin?
Typical onset of Familial cortical myoclonus is adult. Age of onset can vary across affected individuals.