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Results: 5

1.

Sclerosis

hardening of the tissue [from CHV]

MedGen UID:
48587
Concept ID:
C0036429
Pathologic Function
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 body attacks itself. 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 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.

Pediatric multiple sclerosis

Multiple sclerosis (MS) is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system (CNS) of unknown etiology. The peak onset is between age 20 and 40 years; it may develop in children and has also been identified in persons over age 60 years. Women are affected approximately twice as often as men. The most common clinical signs and symptoms, occurring in isolation or in combination, include sensory disturbance of the limbs (~30%), partial or complete visual loss (~15%), acute and subacute motor dysfunction of the limbs (~13%), diplopia (7%), and gait dysfunction (5%). The course may be relapsing-remitting or progressive, severe or mild, and may involve the entire neuroaxis in a widespread fashion or predominantly affect the spinal cord and optic nerves. The four clinical phenotypes of MS are: relapsing-remitting MS (RR-MS) (initially occurring in more than 80% of individuals with MS); primary progressive MS (PP-MS) (occurring in 10%-20% of individuals with MS); progressive relapsing MS (PR-MS) (a rare form); and secondary progressive MS (SP-MS), to which approximately half of all persons diagnosed with RR-MS convert within a decade after the initial diagnosis. [from GeneReviews]

MedGen UID:
430814
Concept ID:
CN037005
Disease or Syndrome
4.

Multiple sclerosis susceptibility

Multiple sclerosis (MS) is an inflammatory, demyelinating, neurodegenerative disorder of the central nervous system (CNS) of unknown etiology. The peak onset is between age 20 and 40 years; it may develop in children and has also been identified in persons over age 60 years. Women are affected approximately twice as often as men. The most common clinical signs and symptoms, occurring in isolation or in combination, include sensory disturbance of the limbs (~30%), partial or complete visual loss (~15%), acute and subacute motor dysfunction of the limbs (~13%), diplopia (7%), and gait dysfunction (5%). The course may be relapsing-remitting or progressive, severe or mild, and may involve the entire neuroaxis in a widespread fashion or predominantly affect the spinal cord and optic nerves. The four clinical phenotypes of MS are: relapsing-remitting MS (RR-MS) (initially occurring in more than 80% of individuals with MS); primary progressive MS (PP-MS) (occurring in 10%-20% of individuals with MS); progressive relapsing MS (PR-MS) (a rare form); and secondary progressive MS (SP-MS), to which approximately half of all persons diagnosed with RR-MS convert within a decade after the initial diagnosis. [from GeneReviews]

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

Pelizaeus-Merzbacher disease

PLP1-related disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Female carriers may manifest mild to moderate signs of the disease. [from GeneReviews]

MedGen UID:
61440
Concept ID:
C0205711
Disease or Syndrome

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