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MCID: SYR001
MIFTS: 51
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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 Genetic diseases Fetal diseases Anatomical: Neuronal diseases |
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NINDS
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54
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 bone resorption disease and traumatic brain injury, and has symptoms including seizures, tremor and back pain. An important gene associated with Syringomyelia is ACY1 (Aminoacylase 1), and among its related pathways/superpathways are Phospholipase-C Pathway and p70S6K Signaling. The drugs Hyaluronic acid and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related phenotypes are cardiovascular system and digestive/alimentary NIH Rare Diseases : 53 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 : 43 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 : 37 
Wikipedia : 75 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 MGI Mouse Phenotypes related to Syringomyelia:46
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Drugs for Syringomyelia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 22)
Interventional clinical trials:(show all 14)
Cochrane evidence based reviews: syringomyelia |
Genetic tests related to Syringomyelia:
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MalaCards organs/tissues related to Syringomyelia:41
Spinal Cord,
Brain,
Bone,
Tonsil,
Skin,
Cerebellum,
Testes
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Articles related to Syringomyelia:(show top 50) (show all 3424)
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Genes related to Syringomyelia (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Pathways related to Syringomyelia according to GeneCards Suite gene sharing:(show all 13)
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Biological processes related to Syringomyelia according to GeneCards Suite gene sharing:
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