How is MERRF treated?

No specific treatment is available for MERRF syndrome. Some medications and therapies may be helpful in managing symptoms. Traditional anticonvulsant drugs are used to help prevent and control seizures associated with MERRF syndrome. Valproic acid should be avoided in the treatment of seizures.

What are the ragged red fibers in 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 adolescence after normal early development.

Can you live with Leigh syndrome?

Although some patients may live until mid-teenage years. Leigh syndrome is a rare inherited genetic disorder that affects the central nervous system. The prognosis of Leigh disorder is very poor, and patients with it mostly live up to six to seven years, but some may live until mid-teenage.

What are other treatments for Leigh disease?

The most common treatment for Leigh’s disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis.

What are the imaging findings of MERRF syndrome?

The concentration of cerebrospinal fluid (CSF) protein may also be elevated in MERRF syndrome. Brain imaging techniques such as magnetic resonance imaging (MRI) may show stroke-like lesions or degeneration of cells (atrophy) and magnetic resonance spectroscopy (MRS) is used to look for lactate in the brain.

What are the clinical characteristics of MERRF?

Clinical Characteristics Clinical Description MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, exercise intolerance, and dementia. Onset can occur from childhood to adulthood, after normal early development.

How do you test for Merritt syndrome?

Diagnosis/testing. The clinical diagnosis of MERRF is based on the following four “canonical” features: myoclonus, generalized epilepsy, ataxia, and ragged red fibers (RRF) in the muscle biopsy. The mitochondrial DNA (mtDNA) gene MT-TK encoding tRNA Lys is the gene most commonly associated with MERRF.

What causes MERRF syndrome?

MERRF syndrome is caused by mutations in mtDNA and is inherited from the mother. MERRF syndrome was first reported in 1973 when a family was described with muscle jerks (myoclonus), seizures and abnormal muscle cells showing characteristic ragged red fibers (RRF). By 1988, 25 people had been identified with a similar collection of features.