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Items: 8

1.

Pain

Pain is a feeling triggered in the nervous system. Pain may be sharp or dull. It may come and go, or it may be constant. You may feel pain in one area of your body, such as your back, abdomen or chest or you may feel pain all over, such as when your muscles ache from the flu. Pain can be helpful in diagnosing a problem. Without pain, you might seriously hurt yourself without knowing it, or you might not realize you have a medical problem that needs treatment. Once you take care of the problem, pain usually goes away. However, sometimes pain goes on for weeks, months or even years. This is called chronic pain. Sometimes chronic pain is due to an ongoing cause, such as cancer or arthritis. Sometimes the cause is unknown. Fortunately, there are many ways to treat pain. Treatment varies depending on the cause of pain. Pain relievers, acupuncture and sometimes surgery are helpful.  [from MedlinePlus]

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
2.

Multiple sclerosis

Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. They can include. -Visual disturbances. -Muscle weakness. -Trouble with coordination and balance. -Sensations such as numbness, prickling, or pins and needles . -Thinking and memory problems. No one knows what causes MS. It may be an autoimmune disease, which happens when your immune system attacks healthy cells in your body by mistake. Multiple sclerosis affects women more than men. It often begins between the ages of 20 and 40. Usually, the disease is mild, but some people lose the ability to write, speak, or walk. There is no single test for MS. Doctors use a medical history, physical exam, neurological exam, MRI, and other tests to diagnose it. There is no cure for MS, but medicines may slow it down and help control symptoms. Physical and occupational therapy may also help. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
10123
Concept ID:
C0026769
Disease or Syndrome
3.

Pain

MedGen UID:
880950
Concept ID:
CN236637
Disease or Syndrome
4.

Multiple sclerosis susceptibility

Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse.There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen.Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40.Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms.
[from GHR]

MedGen UID:
429785
Concept ID:
CN031763
Disease or Syndrome
5.

Thrombocytopenia, X-linked

The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities. [from GeneReviews]

MedGen UID:
326416
Concept ID:
C1839163
Disease or Syndrome
6.

Colorblindness, partial, deutan series

Hereditary red-green color vision defects manifest mostly in males; the condition is not accompanied by ophthalmologic or other associated clinical abnormalities. Most individuals with protanomalous and deuteranomalous color vision defects (i.e., anomalous trichromats) have no problems in naming colors; some males with mildly defective red-green color vision may not be aware of it until they are tested. Individuals with dichromatic color vision defects (i.e., dichromats) are more proficient in deciphering texture camouflaged by color than observers with normal red-green color vision. Among individuals of northern European origin, about 8% of males and 0.5% of females have red-green color vision defects; these defects are less frequent among males of African (3%-4%) or Asian (3%) origin. [from GeneReviews]

MedGen UID:
102324
Concept ID:
C0155016
Disease or Syndrome
7.

Van der Woude syndrome

IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some non-classic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). In both VWS and PPS, growth and intelligence are normal. [from GeneReviews]

MedGen UID:
61233
Concept ID:
C0175697
Congenital Abnormality; Disease or Syndrome
8.

Spasticity

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. [from HPO]

MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
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