Myoclonic Epilepsy Associated With Ragged Red Fibers
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What is the definition of Myoclonic Epilepsy Associated With Ragged Red Fibers?
Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). In over 80% of cases, MERRF is caused by genetic changes in the mitochondrial gene called MT-TK. Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with genetic changes in these other genes have additional signs and symptoms. Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function.
What are the alternative names for Myoclonic Epilepsy Associated With Ragged Red Fibers?
  • Myoclonic epilepsy with ragged red fibers
  • Fukuhara syndrome
  • MERRF
  • Merrf syndrome
  • Myoclonic epilepsy associated with ragged red fibers
  • Myoencephalopathy ragged-red fiber disease
Who are the top Myoclonic Epilepsy Associated With Ragged Red Fibers Local Doctors?
Advanced in Myoclonic Epilepsy Associated With Ragged Red Fibers
Advanced in Myoclonic Epilepsy Associated With Ragged Red Fibers
Referral may be required

Duke Health Integrated Practice Inc

3320 Wake Forest Rd, 
Raleigh, NC 
919-684-8111
Languages Spoken:
English
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Michael Pietak is a Neurologist practicing medicine in Raleigh, North Carolina. Dr. Pietak is rated as an Advanced provider by MediFind in the treatment of Myoclonic Epilepsy Associated With Ragged Red Fibers. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Seizures, Generalized Tonic-Clonic Seizure, Autosomal Dominant Partial Epilepsy with Auditory Features, and Memory Loss. Dr. Pietak is board certified in American Board Of Psychiatry/Neurology, Epilepsy, American Board Of Psychiatry/Neurology, Neurology , and American Board Of Psychiatry/Neurology, Clinical Neurophysiology . Dr. Pietak is currently accepting new patients.

Experienced in Myoclonic Epilepsy Associated With Ragged Red Fibers
Experienced in Myoclonic Epilepsy Associated With Ragged Red Fibers
Referral may be required

Reading Hospital Neurology Suite 3020

301 S 7th Ave, Ste 3020, 
West Reading, PA 
484-628-4656
Languages Spoken:
English, Gujarati , Hindi, Punjabi
See accepted insurances
Accepting New Patients
Offers Telehealth

Jasdeep Khurana is a Neurologist practicing medicine in West Reading, Pennsylvania. Dr. Khurana is rated as an Experienced provider by MediFind in the treatment of Myoclonic Epilepsy Associated With Ragged Red Fibers. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Seizures, Partial Familial Epilepsy, Memory Loss, and Partial Seizure. Dr. Khurana is board certified in American Board Of Psychiatry And Neurology. Dr. Khurana is currently accepting new patients.

 
 
 
 
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Distinguished in Myoclonic Epilepsy Associated With Ragged Red Fibers
Distinguished in Myoclonic Epilepsy Associated With Ragged Red Fibers
Referral may be required

UCLA Health Westwood Neurology

300 UCLA Medical Plz Ste B200, 
Los Angeles, CA 
310-794-1195
Languages Spoken:
English
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Offers Telehealth

Perry Shieh is a Neurologist practicing medicine in Los Angeles, California. Dr. Shieh is rated as a Distinguished provider by MediFind in the treatment of Myoclonic Epilepsy Associated With Ragged Red Fibers. He is also highly rated in 47 other conditions, according to our data. His clinical expertise encompasses Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Spinal Muscular Atrophy (SMA), and Tubular Aggregate Myopathy.

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What are the latest Myoclonic Epilepsy Associated With Ragged Red Fibers Clinical Trials?
Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
Enrollment Status: Recruiting
Publish Date: August 07, 2026

Summary: The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.

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North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Enrollment Status: Recruiting
Publish Date: February 04, 2026

Summary: The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center