Myoclonic Epilepsy Associated With Ragged Red Fibers Overview

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Learn About Myoclonic Epilepsy Associated With Ragged Red Fibers

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?
Dr. Taneeta M. Ganguly
Neurology
Dr. Taneeta M. Ganguly
Neurology

University Of Penn - Medical Group

3400 Civic Ctr Blvd, Fl 2, 
Philadelphia, PA 
 (7.3 mi)
215-662-3487
Languages Spoken:
English
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Offers Telehealth

Taneeta Ganguly is a Neurologist in Philadelphia, Pennsylvania. Dr. Ganguly and is rated as an Experienced provider by MediFind in the treatment of Myoclonic Epilepsy Associated With Ragged Red Fibers. Her top areas of expertise are Seizures, Generalized Tonic-Clonic Seizure, Partial Familial Epilepsy, and Partial Seizure.

Dr. Goran Rakocevic
Neurology
Dr. Goran Rakocevic
Neurology

Jefferson University Physicians

909 Walnut St, 2nd Floor, 
Philadelphia, PA 
 (8.9 mi)
215-955-7000
Languages Spoken:
English
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Accepting New Patients

Goran Rakocevic is a Neurologist in Philadelphia, Pennsylvania. Dr. Rakocevic and is rated as an Experienced provider by MediFind in the treatment of Myoclonic Epilepsy Associated With Ragged Red Fibers. His top areas of expertise are Stiff Person Syndrome, Inclusion Body Myositis, Hereditary Hyperekplexia, and Myasthenia Gravis. Dr. Rakocevic is currently accepting new patients.

 
 
 
 
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Dr. Anurag Walia
Neurology
Dr. Anurag Walia
Neurology

Gni Neuroservices, LLC

2601 Holme Ave, Suite 201, 
Philadelphia, PA 
 (14.3 mi)
844-464-6387
Languages Spoken:
English
See accepted insurances

Anurag Walia is a Neurologist in Philadelphia, Pennsylvania. Dr. Walia and is rated as an Advanced provider by MediFind in the treatment of Myoclonic Epilepsy Associated With Ragged Red Fibers. His top areas of expertise are Transient Ischemic Attack (TIA), Peripheral Neuropathy, Myoclonic Epilepsy Associated With Ragged Red Fibers, Essential Tremor, and Carotid Artery Surgery.

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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: December 21, 2023

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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Who are the sources who wrote this article ?

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