Merrf syndrome
MERRF Syndrome (Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease that affects many of the body's systems, particularly the nervous system and muscles. This condition is characterized by myoclonus, which is a condition that causes spontaneous muscle twitching.
Symptoms[edit | edit source]
The primary symptom of MERRF Syndrome is myoclonus, but it can also cause a variety of other symptoms. These can include epilepsy, weakness and wasting in muscles, hearing loss, difficulty with balance and coordination (ataxia), and a variety of other issues. The severity of these symptoms can vary widely from person to person, even among members of the same family.
Causes[edit | edit source]
MERRF Syndrome is caused by mutations in the mitochondrial DNA. Specifically, most cases are caused by a mutation in the MT-TK gene. This gene provides instructions for making a molecule that is essential for producing proteins within mitochondria. When this gene is mutated, it can disrupt the function of the mitochondria and lead to the symptoms of MERRF Syndrome.
Diagnosis[edit | edit source]
Diagnosis of MERRF Syndrome can be challenging, as the symptoms can vary widely and may resemble other conditions. However, a combination of clinical symptoms, family history, and certain tests can help to confirm a diagnosis. These tests may include a muscle biopsy, which can reveal the characteristic "ragged red fibers" that give the condition its name.
Treatment[edit | edit source]
There is currently no cure for MERRF Syndrome, and treatment is focused on managing symptoms. This can include medications to control seizures and myoclonus, physical therapy to help with muscle weakness and coordination, and other supportive treatments.
Prognosis[edit | edit source]
The prognosis for individuals with MERRF Syndrome can vary widely, depending on the severity of symptoms. Some individuals may live into adulthood with mild symptoms, while others may experience severe disability.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Merrf syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
