Neurosurgeon, University of California Los Angeles (UCLA) Neurosurgeon, University of Wisconsin Medical School Neurosurgeon, North Shore University Hospital Neurosurgeon, Stanford University Medical Center Neurosurgeon, Duke University Medical Center Heidi Cope, MS, CGC Genetic Counselor, Study Coordinator This research has been supported in part by grants from the National Institutes of Health, Bobby Jones Open Fund, American Syringomyelia & Chiari Alliance Project (ASAP), Chiari & Syringomyelia Foundation (CSF) and Conquer Chiari.Īllison Ashley-Koch, PhD Co-Principal Investigator and Genetic Epidemiologist Finally, CM1/S is known to co-occur with a number of different genetic syndromes. Observations of identical twins (genetically the same) have shown that if one twin is diagnosed with CM1/S, the other twin often also has CM1/S. This evidence includes families with multiple individuals all diagnosed with CM1/S. Several lines of evidence point to a genetic contribution to CM1/S. The long-term goal is to find out how these genetic factors cause or contribute to CM1/S, with the hope that this knowledge will lead to improved diagnosis and more effective treatments. Our research is aimed at learning if CM1/S is indeed caused by factors inherited through the family and, if so, which genes are involved. The Duke Molecular Physiology Institute (DMPI), formerly the Duke Center for Human Genetics, is investigating the hereditary basis of Chiari type I malformation with or without syringomyelia (CM1/S). Often, individuals with CM1 are also diagnosed with syringomyelia. However, there are also some cases that are present at birth. In some instances, syringomyelia is caused by an injury. Syringomyelia is a condition characterized by a fluid-filled cyst in the spinal cord. As a result, the diagnosis of CM1 is often delayed until more severe symptoms present themselves or after milder symptoms persist for some time. When symptoms are present, they are often vague or nonspecific. These symptoms may include headaches, especially at the base of the skull, dizziness, double vision, weakness in the arms, and/or difficulty walking. There are many symptoms associated with CM1. This protrusion causes pressure in the brain, contributing to the symptoms people experience. Often, a portion of the cerebellum called the cerebellar tonsils protrudes out of the base of the skull into the spinal canal. In this disorder, the portion of the brain called the cerebellum and/or brainstem lies lower than usual.
WHAT ARE CHIARI TYPE 1 MALFORMATION AND SYRINGOMYELIA?Ĭhiari type 1 malformation (CM1) occurs in the region where the brain and the spinal cord join.
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