Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.
Frederick Hecht, MD, lives in Scottsdale, Arizona. Dr. Hecht is a Pediatrician and Medical Geneticist and is certified by both the American Boards of Pediatrics and Medical Genetics. Dr. Hecht was born and raised in Baltimore and attended Dartmouth College in Hanover, N.H. and the Sorbonne at the University of Paris receiving his BA degree cum laude with distinction from Dartmouth.
MELAS syndrome is caused by mutations in the genetic
material (DNA) in the mitochondria. While most of our DNA is in the chromosomes in the cell
nucleus, some of our DNA is in
another important structure called the mitochondrion (plural: mitochondria).
The mitochondria are located outside the nucleus in the cell's cytoplasm. Each
mitochondrion has a chromosome made of DNA that is quite different from the
better known chromosomes in the nucleus. The mitochondrial chromosome is much
smaller; it is round (whereas the chromosomes in the nucleus are normally shaped
like rods); there are many copies of the mitochondrial chromosome in every cell;
and no matter whether we are male or female, we inherit all of our mitochondrial
chromosome from our mother.
Much of the DNA in our mitochondria is used to manufacture proteins involved in the key function of mitochondria -- to produce energy and power the cells in our body.
As a result of the disturbed function of their cells'
mitochondria, patients with MELAS develop brain dysfunction (encephalopathy)
with seizures and headaches, as well as muscle disease with a build-up of lactic acid in the blood (a condition
called lactic acidosis),
temporary local paralysis (stroke-like episodes), and abnormal thinking (dementia).
A stroke results from impaired oxygen delivery to brain cells via the bloodstream. A stroke is also referred to as a CVA, or cerebrovascular incident. Symptoms of stroke include: sudden numbness or weakness of the face, arm or leg. Sudden confusion, trouble speaking or understanding. Sudden trouble seeing in one or both eyes, sudden trouble walking, dizziness, or loss of balance, and/or sudden severe headache with no known cause. A TIA, or transient ischemic attack is a short-lived temporary impairment of the brain caused by loss of blood supply. Stroke is a medical emergency.
Dementia is a significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. There are different criteria classification schemes for dementias such as cortical, subcortical, progressive, primary, and secondary dementias. Other conditions and medication reactions can also cause dementia. Dementia is diagnosed based on a certain set of criteria. Treatment for dementia is generally focused on the symptoms of the disease.
Epilepsy is a brain disorder in which the person has seizures. There are two kinds of seizures, focal and generalized. There are many causes of epilepsy. Treatment of epilepsy (seizures) depends upon the cause and type of seizures experienced.
Learn about mitochondrial disease, genetic disease in which include a group of neuromuscular diseases that are caused by damage to the mitochondria Common mitochondrial myopathies include Kearns–Sayre syndrome, myoclonus epilepsy, and mitochondrial encephalomyopathy. Symptoms of mitochondrial disease include heart failure, exercise intolerance, dementia, muscle weakness, movement disorders, deafness, blindness, stroke-like episodes, and more. There is no specific treatment for mitochondrial disease.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Few experiences match the drama of a convulsive seizure. A person having a severe seizure may cry out, fall to the floor
unconscious, twitch or move uncontrollably, drool, or even lose bladder control. Within minutes, the attack is over, and the person regains consciousness but is exhausted and dazed. This is the image most people have when they hear the word epilepsy. However, this type of seizure -- a
generalized tonic-clonic seizure -- is only one kind of epilepsy. There are many other kinds, each with a different set of symptoms.
Epilepsy was one of the first brain disorders to be described. It was mentioned in ancient Babylon more than 3,000 years ago. The strange behavior caused by some seizures has contributed through the ages to many superstitions and prejudices. The word epilepsy is derived from the Greek word for "attack." People once thought that those with epilepsy were being visited by demons or gods. However, in 400 B.C., the early...
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