MERRF syndrome
MERRF syndrome
MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibers) is a rare, multisystemic, and progressive neurological disorder that primarily affects the nervous system and muscles. Pronounced as "merf", the term MERRF syndrome is an acronym derived from the main features of the disorder.
Etymology
The term MERRF syndrome was first coined in the 1980s. The name is an acronym for the primary symptoms of the disorder: Myoclonus, Epilepsy, Ragged Red Fibers. The term "ragged red fibers" refers to the abnormal appearance of muscle fibers observed in microscopic examination, which are indicative of the disease.
Symptoms
The primary symptoms of MERRF syndrome include myoclonus (quick, involuntary muscle jerks), epilepsy, weakness, and multiple other signs of neurological dysfunction. The onset and progression of symptoms can vary widely among affected individuals. Other symptoms may include ataxia (lack of muscle control), hearing loss, and dementia.
Causes
MERRF syndrome is caused by mutations in the mitochondrial DNA, specifically in the MT-TK gene. This gene provides instructions for making a molecule that is essential for the normal function of mitochondria, the energy-producing centers within cells.
Diagnosis
Diagnosis of MERRF syndrome is based on clinical symptoms, family history, and confirmed by genetic testing. The presence of "ragged red fibers" in a muscle biopsy can also support the diagnosis.
Treatment
There is currently no cure for MERRF syndrome. Treatment is symptomatic and supportive, and may include antiepileptic drugs for seizures and myoclonus, physical therapy for ataxia, and hearing aids for hearing loss.
See also
External links
- Medical encyclopedia article on MERRF syndrome
- Wikipedia's article - MERRF syndrome
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