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?
Elite in Myoclonic Epilepsy Associated With Ragged Red Fibers
Elite in Myoclonic Epilepsy Associated With Ragged Red Fibers
Chang-hua, TNQ, TW 

Yu-ting Wu practices practicing medicine in Chang-hua, Taiwan. Ms. Wu is rated as an Elite expert by MediFind in the treatment of Myoclonic Epilepsy Associated With Ragged Red Fibers. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Myoclonic Epilepsy Associated With Ragged Red Fibers, Lafora Disease, Dentatorubral-Pallidoluysian Atrophy, and MELAS Syndrome.

Experienced in Myoclonic Epilepsy Associated With Ragged Red Fibers
Experienced in Myoclonic Epilepsy Associated With Ragged Red Fibers

Reading Hospital Neurology Suite 3020

301 S 7th Ave, Ste 3020, 
West Reading, PA 
Languages Spoken:
English, Gujarati , Hindi, Punjabi
Offers Telehealth

. 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.

 
 
 
 
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Advanced in Myoclonic Epilepsy Associated With Ragged Red Fibers
Advanced in Myoclonic Epilepsy Associated With Ragged Red Fibers

Duke Health Integrated Practice Inc

3480 Wake Forest Rd, 
Raleigh, NC 
Experience:
16+ years
Languages Spoken:
English
Offers Telehealth

As a general neurologist, I see and treat patients with a variety of neurological problems. During my residency at Duke I became particularly interested in seizure disorders, and completed a clinical neurophysiology fellowship focused on the diagnosis and management of epilepsy. I work with my patients to create a treatment plan that addresses and emphasizes their values. My goal is to make each patient feel heard and provide them with the best possible care. 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, Neurology , American Board Of Psychiatry/Neurology, Clinical Neurophysiology , and American Board Of Psychiatry/Neurology, Epilepsy.

What are the latest Myoclonic Epilepsy Associated With Ragged Red Fibers Clinical Trials?
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

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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Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders

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