Rare myoclonus

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:306747
Who is this for?
Show terms as
1Active trials1Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Rare myoclonus is an uncommon movement disorder characterized by sudden, brief, involuntary muscle jerks or twitches. Myoclonus itself refers to quick, shock-like movements that a person cannot control. In rare forms of myoclonus, these jerks may occur in unusual patterns, affect uncommon body regions, or arise from causes that are not frequently seen. The muscle jerks can happen when a person is at rest, during movement, or in response to a stimulus such as a sudden noise or touch. Myoclonus can affect one muscle, a group of muscles, or multiple areas of the body. It may interfere with walking, eating, speaking, or performing fine tasks with the hands. The severity varies widely — some people experience only mild, occasional twitches, while others have frequent and disabling jerks that significantly impact daily life. The treatment landscape for rare myoclonus focuses mainly on managing symptoms, since the underlying cause may be difficult to identify or may not have a specific cure. Medications such as clonazepam, valproic acid, and levetiracetam are commonly used to reduce the frequency and severity of the jerks. In some cases, treating an underlying condition (such as a metabolic disorder or infection) can improve or resolve the myoclonus. Research is ongoing to better understand the many rare causes of myoclonus and to develop more targeted therapies.

Key symptoms:

Sudden, brief involuntary muscle jerksTwitching of arms, legs, or the whole bodyJerks triggered by noise, light, or touchDifficulty with coordination and balanceTrouble walking or maintaining postureDifficulty with fine hand movements like writingSpeech difficulties due to facial or throat muscle jerksJerks that worsen with stress or fatigueMuscle stiffness or tensionSleep disruption due to nighttime jerksDifficulty eating or swallowing in severe cases

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
Feb 2002Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

National Human Genome Research Institute (NHGRI) — NA

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Rare myoclonus.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
N/A1 trial
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
N/A
Actively Recruiting
PI: Cynthia J Tifft, M.D. (National Human Genome Research Institute (NHGRI)) · Sites: Bethesda, Maryland · Age: 1100 yrs

Specialists

1 foundView all specialists →
CM
Cynthia J Tifft, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 2 active trials

Treatment Centers

8 centers
⚗️ Trial Site

National Institutes of Health Clinical Center

📍 Bethesda, Maryland

👤 Payal P Khincha, M.D.

👤 Christopher Grunseich, M.D.

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🔬 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

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

Travel Grants

No travel grants are currently matched to Rare myoclonus.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Rare myoclonusForum →

No community posts yet. Be the first to share your experience with Rare myoclonus.

Start the conversation →

Latest news about Rare myoclonus

Disease timeline:

New trial: Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

Phase NA trial recruiting.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What type of myoclonus do I have, and what is the likely underlying cause?,Should I have genetic testing to look for a hereditary cause?,What medications are most likely to help my specific type of myoclonus, and what are the side effects?,Is my condition likely to stay stable or get worse over time?,Are there physical therapy or rehabilitation programs that could help me?,What should I do if my jerks suddenly get much worse?,Are there any clinical trials or new treatments being studied for my condition?

Common questions about Rare myoclonus

What is Rare myoclonus?

Rare myoclonus is an uncommon movement disorder characterized by sudden, brief, involuntary muscle jerks or twitches. Myoclonus itself refers to quick, shock-like movements that a person cannot control. In rare forms of myoclonus, these jerks may occur in unusual patterns, affect uncommon body regions, or arise from causes that are not frequently seen. The muscle jerks can happen when a person is at rest, during movement, or in response to a stimulus such as a sudden noise or touch. Myoclonus can affect one muscle, a group of muscles, or multiple areas of the body. It may interfere with walki

Are there clinical trials for Rare myoclonus?

Yes — 1 recruiting clinical trial is currently listed for Rare myoclonus on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Rare myoclonus?

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