MERRF Syndrome - Symptoms, Causes, Treatment | NORD
2021年6月14日 · A clinical diagnosis of MERRF can be made based on the presence of four features: myoclonus (muscle spasms), generalized epilepsy (seizures), ataxia (impaired ability to coordinate movements) and abnormal muscle cells showing ragged red fibers (RRF) when a muscle biopsy is viewed microscopically.
MERRF syndrome - Wikipedia
MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy. [1] MERRF syndrome affects different parts of the body, particularly the muscles and nervous system. [2]
Myoclonic Epilepsy and Ragged Red Fibers - StatPearls - NCBI Bookshelf
2023年7月16日 · Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem mitochondrial syndrome characterized by progressive myoclonus and seizures. Other features associated with MERRF include cerebellar ataxia, myopathy, cardiac arrhythmia, sensorineural hearing loss, optic atrophy, and dementia.
Myoclonic epilepsy with ragged-red fibers - MedlinePlus
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. Explore symptoms, inheritance, genetics of this condition.
MERRF syndrome - National Organization for Rare Disorders
A condition that can be caused by mutation (s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.
MERRF - GeneReviews® - NCBI Bookshelf - National Center for ...
2003年6月3日 · MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, exercise intolerance, and dementia.
Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
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 …
MERRF: Myoclonus Epilepsy Ragged-red Fibers | North American ...
Ragged-red fibers (a characteristic microscopic abnormality observed in muscle biopsy of patients with MERRF and other mitochondrial disorders) Additional manifestations may include: hearing loss, short stature, exercise intolerance, dementia, multiple lipomas (fat tumors under the skin), cardiac defects, eye abnormalities, and speech impairment.
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.
MERRF Syndrome - an overview | ScienceDirect Topics
Myoclonic epilepsy associated with Ragged-Red Fibers or MERRF syndrome (OMIM #545000) is a mitochondrial disorder characterized by myoclonus, generalized epilepsy, ataxia and ragged red fibers in the muscle biopsy.
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