Neurology - Neurological Fact Sheet

Neurology Fact Sheet The Barth Syndrome Foundation www.barthsyndrome.org 05-May-2006 PGB DISCLAIMER: This fact sheet is designed for educational purposes only and is not intended to serve as medical advice. The information provided here should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. Neurological Manifestations in Barth Syndrome Neurology is the study of the various nervous systems—central, and peripheral muscles plus the neuromuscular junction and their disorders. There are

three types of muscles in our body: • Skeletal muscle: this is the type of muscle that carries out our voluntary actions, like walking, manipulating objects with our hands, blinking and breathing. Some of these actions are automated, like breathing and blinking, but can be interrupted or initiated when we want to. • Heart muscle: this is the part of the heart that contracts and relaxes unintentionally day and night all life long. • Smooth muscle: this is the muscle that surrounds our stomach, blood vessels and sweat glands. The action of this muscle is also unintentional, although emotions may influence its working. Of these three types, the affected muscles in Barth syndrome are the skeletal muscle and heart muscle. Barth syndrome manifests itself neurologically in several different ways: • Myopathy—a disorder of muscle tone, weakness, hypotonia. In Barth syndrome, the amount of muscle is often diminished, although not all muscles are affected to the same degree. The muscles that move the eyes are rarely involved, neither is the diaphragm, which controls breathing. The muscles that appear to be mostly affected are leg muscles, muscles of the pelvic girdle and shoulder muscles. This affects a Barth individual’s daily life and...

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