Living with MERRF syndrome
A mitochondrial condition with muscle twitches, seizures, weakness, and coordination problems, usually starting in childhood or the teens.
Understanding MERRF syndrome
Signs usually appear in childhood or adolescence and vary widely, even within a family. Main features are muscle twitches (myoclonus), weakness, and increasing stiffness. Under the microscope, muscle cells look abnormal (ragged-red fibers). Other features include seizures, poor coordination, nerve problems, and slow decline in thinking.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle twitches and jerks (myoclonus)
- Seizures
- Muscle weakness (myopathy)
- Poor coordination (ataxia)
- Hearing loss and optic atrophy
- Short stature
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation, MitoAction and Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction, Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. It is mitochondrial, meaning it is passed from mother to children through the mitochondria in egg cells.
Also known as: fukuhara syndrome; merrf; merrf - myoclonic epilepsy with ragged red fibers; myoclonic epilepsy - ragged red fibers; myoclonic epilepsy - ragged red fibres; myoclonic epilepsy associated with ragged-red fibers
Patient organizations
- United Mitochondrial Disease FoundationMERRF syndrome · United States
- MitoActionMERRF syndrome · United States
- Muscular Dystrophy AssociationMERRF syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Epilepsy FoundationEpilepsy · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with MERRF syndrome.
Explore research for MERRF syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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