Familial dyskinesia and facial myokymia

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ORPHA:324588OMIM:606703G51.4
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1Specialists8Treatment centers

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Overview

Familial dyskinesia and facial myokymia (FDFM) is a very rare inherited neurological condition that affects movement and the muscles of the face. People with this condition experience two main types of symptoms: dyskinesia, which refers to involuntary, abnormal movements of the limbs and body, and facial myokymia, which involves fine, rippling or twitching movements of the facial muscles. These facial twitches are often visible under the skin and can affect areas around the eyes, cheeks, and chin. The condition typically begins in childhood or adolescence and tends to run in families, following an autosomal dominant pattern. This means that having just one copy of the changed gene from one parent is enough to cause the condition. Episodes of involuntary movement may be triggered by stress, fatigue, or physical exertion, and they can vary in severity from person to person, even within the same family. Because this condition is extremely rare, treatment options are limited and mainly focus on managing symptoms. Some patients may benefit from medications used for other movement disorders, but there is currently no cure or specifically approved therapy for FDFM. Working closely with a neurologist who specializes in movement disorders is important for managing symptoms and maintaining quality of life.

Also known as:

Key symptoms:

Involuntary movements of the arms and legs (dyskinesia)Fine twitching or rippling of facial muscles (facial myokymia)Twitching around the eyes and cheeksEpisodes of uncontrolled body movementsMovements that worsen with stress or tirednessDifficulty controlling voluntary movements during episodesIntermittent or episodic nature of symptomsPossible mild coordination difficulties

Clinical phenotype terms (15)— hover any for plain English
Facial myokymiaHP:0000317Orofacial dyskinesiaHP:0002310Resting tremorHP:0002322Limb hypertoniaHP:0002509
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial dyskinesia and facial myokymia.

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No actively recruiting trials found for Familial dyskinesia and facial myokymia at this time.

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Specialists

1 foundView all specialists →
AM
Aurélie Meneret
Specialist
PI on 1 active trial20 Familial dyskinesia and facial myokymia publications

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Familial dyskinesia and facial myokymia.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What triggers should we watch for that might bring on movement episodes?,Are there medications that could help reduce the frequency or severity of episodes?,Should other family members be tested for this condition?,How will this condition affect my child's development and schooling?,Are there any clinical trials or research studies we could participate in?,What should we do if an episode is particularly severe or prolonged?,How often should we schedule follow-up visits?

Common questions about Familial dyskinesia and facial myokymia

What is Familial dyskinesia and facial myokymia?

Familial dyskinesia and facial myokymia (FDFM) is a very rare inherited neurological condition that affects movement and the muscles of the face. People with this condition experience two main types of symptoms: dyskinesia, which refers to involuntary, abnormal movements of the limbs and body, and facial myokymia, which involves fine, rippling or twitching movements of the facial muscles. These facial twitches are often visible under the skin and can affect areas around the eyes, cheeks, and chin. The condition typically begins in childhood or adolescence and tends to run in families, followi

How is Familial dyskinesia and facial myokymia inherited?

Familial dyskinesia and facial myokymia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Familial dyskinesia and facial myokymia typically begin?

Typical onset of Familial dyskinesia and facial myokymia is childhood. Age of onset can vary across affected individuals.

Which specialists treat Familial dyskinesia and facial myokymia?

1 specialists and care centers treating Familial dyskinesia and facial myokymia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.