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MCID: SYR001
MIFTS: 46
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Syringomyelia
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Syringomyelia:Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Neuronal diseases |
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NINDS :
53
Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a fluid-filled cyst forms within the spinal cord. This cyst, called a syrinx, expands and elongates over time, damaging the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage may cause pain, weakness, and stiffness in the back, shoulders, arms, or legs. Symptoms vary among individuals. Other symptoms may include headaches and a loss of the ability to feel extremes of hot or cold, especially in the hands. Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing or straining. If not treated surgically, syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. In most cases, the disorder is related to a congenital abnormality of the brain called a Chiari malformation, which causes brain tissue to protrude from its normal location in the back of the head and into the cervical or neck portion of the spinal canal. Syringomyelia may also occur as a complication of trauma, inflammation, spinal cord injury, hemorrhage, spinal cord tumors, or other conditions. Symptoms may appear months or even years after the initial injury, starting with pain, weakness, and sensory impairment originating at the site of trauma. Some cases of syringomyelia are familial, although this is rare.
MalaCards based summary : Syringomyelia is related to arachnoiditis and lumbosacral lipoma, and has symptoms including seizures, tremor and back pain. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1). The drugs Hyaluronic acid and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related phenotypes are Decreased viability and Decreased viability NIH Rare Diseases : 52 Syringomyelia is a condition in which a cyst, called a syrinx, forms within the spinal cord. This cyst expands and elongates over time, destroying the center of the spinal cord which can result in pain, weakness, stiffness in the back, shoulders, arms, or legs, headaches, and insensitivity to temperature (especially in the hands). Symptoms vary from person to person. Syringomyelia is often related to a congenital abnormality of the brain called a Chiari I malformation, but may also occur as a complication of trauma, inflammation of the tissue that surrounds the brain and spinal cord (meningitis) such as the inflammation of the arachnoides (arachnoiditis ), hemorrhage , or a tumor . Symptoms may appear months or even years after the initial injury. Some cases of syringomyelia are familial , although this is rare. Treatment often involves surgery and avoiding activities that involve straining. Drainage of the cysts using a catheter , drainage tubes, and valves may be required in some patients. If not treated, the disorder can lead to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. MedlinePlus : 42 Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. This cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. Damage to the spinal cord from the syrinx can cause symptoms such as Pain and weakness in the back, shoulders, arms or legs Headaches Inability to feel hot or cold Symptoms vary according to the size and location of the syrinx. They often begin in early adulthood. Syringomyelia usually results from a skull abnormality called a Chiari I malformation. A tumor, meningitis or physical trauma can also cause it. Surgery is the main treatment. Some people also need to have the syrinx drained. Medicines can help ease pain. In some cases, there are no symptoms, so you may not need treatment. KEGG : 36 Syringomyelia is a spinal disorder characterized by the presence of abnormal fluid-filled cavities within the spinal cord. Early symptoms include headache, altered pain and temperature sensation, and paresthesia. If fluid continues to enlarge the cyst, the syrinx has the potential to compress or destroy the affected portions of the spinal cord. Surgical intervention is typically recommended to treat this condition, although a successful procedure often is limited to providing minimal neurological improvement or simply halting the deterioration. The term syringomyelia describes many pathogenetically different disorders. A popular broad grouping is a classification based on the assumed pathogenesis and association with other disorders. It has been proposed to divide the disorder into three subgroups. (1) Syringomyelia as a result of changed cerebrospinal fluid (CSF) flow dynamics related to hindbrain disorders, e.g. Chiari malformation, Dandy-Walker syndrome, arachnoiditis or osseous abnormalities. (2) Syringomyelia as a result of intramedullary tissue damage caused by haemorrhage or infarction. (3) Syringomyelia as a result of intramedullary tumour with secretory capabilities. Other proposed classifications are based on syrinx fluid composition, central canal communication between syrinx and the fourth ventricle, or the microanatomical localisation of the syrinx. Wikipedia : 74 Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the... more... |
UMLS symptoms related to Syringomyelia:seizures, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness GenomeRNAi Phenotypes related to Syringomyelia according to GeneCards Suite gene sharing:26 (show all 12)
MGI Mouse Phenotypes related to Syringomyelia:45
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Drugs for Syringomyelia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 20)
Interventional clinical trials:(show all 14)
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