A type of mitochondrial myopathy characterized by myoclonic epilepsy and ragged red fibers of muscle tissue
MERRF (myoclonic epilepsy and ragged red fibers) syndrome is a type of mitochondrial myopathy. A mitochondrial myopathy is a type of myopathy associated with mitochondrial dysfunction. One of the major distinctions of this condition is the inability of the muscle to perform properly. In mitochondrial myopathies, the underlying cause is a dysfunctional mitochondrion due to a pathological mutation in the mitochondrial DNA. The condition is associated with point mutation in any of these genes, A8344G, T8356C, G8361A, and G8363A. The most common cause is a point mutation in the gene A8344G.
MERRF syndrome is inherited in a mitochondrial pattern. This means that the individual with this condition inherited the disorder from their carrier mother. This form of inheritance is referred to as maternal inheritance. This is because the egg cell is the source of the mitochondrial DNA.
MERRF syndrome is characterized by myoclonic epilepsy and ragged red fibers of muscle tissue. Red muscle tends to be rich in mitochondria. Biochemical tests disclose changes in the enzymes of the respiratory chain. Some of the common symptoms include seizures, muscle weakness, ataxia, hearing loss, and short stature. The onset of the disorder is typically at childhood or adolescence.
- Fukuhara syndrome
- myoclonus epilepsy with ragged red fibers