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.
The diagnosis of MELAS is usually suspected on clinical
grounds. However, confirmation of the diagnosis usually requires a muscle or brain biopsy. The muscle biopsy shows
characteristic ragged red fibers; a brain biopsy shows stroke-like changes.
MELAS can affect people at very different times in life, ranging from age 4 to age 40 or more. However, most patients with MELAS syndrome show symptoms before they are 20 years old.
There is no known treatment for the underlying disease,
which is progressive and fatal. Patients are managed according to what
areas of the body are affected at a particular time. Antioxidants and vitamins have been used, but there have been no consistent successes reported.
MELAS and all other mitochondrial diseases were entirely enigmatic before it was discovered that they were due to mutations not in regular chromosomes but in the chromosome of the mitochondria.
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.
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