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Items: 14

1.

Leukodystrophy

Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. [from HPO]

MedGen UID:
505231
Concept ID:
CN002194
Finding
2.

Adult onset

Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. [from HPO]

MedGen UID:
342909
Concept ID:
C1853562
Finding
3.

Leukodystrophy

The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with. - Movement. - Speaking. - Vision. - Hearing . - Mental and physical development . Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time. . There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies. . NIH: National Institute of Neurological Disorders and Stroke .  [from MedlinePlus]

MedGen UID:
6070
Concept ID:
C0023520
Disease or Syndrome
4.

Neurologic

MedGen UID:
880863
Concept ID:
CN236425
Finding
5.

Leukoencephalopathy

This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. [from HPO]

MedGen UID:
505209
Concept ID:
CN002135
Finding
6.

Diffuse leukoencephalopathy

MedGen UID:
358229
Concept ID:
C1868514
Finding
7.

Hereditary diffuse leukoencephalopathy with spheroids

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), which includes both hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), is characterized by executive dysfunction, memory decline, personality changes, motor impairments, and seizures. A frontal lobe syndrome (e.g., loss of judgment, lack of social inhibitors, lack of insight, and motor persistence) usually appears early in the disease course. The mean age of onset is usually in the fourth decade. Affected individuals eventually become bedridden with spasticity and rigidity. The disease course ranges from two to 30 or more years (mean: 8 years). [from GeneReviews]

MedGen UID:
341741
Concept ID:
C1857300
Disease or Syndrome
8.

Leukoencephalopathy

Any of various diseases affecting the white matter of the central nervous system. [from MeSH]

MedGen UID:
78722
Concept ID:
C0270612
Disease or Syndrome
9.

Infective encephalitis

Brain inflammation caused by an infectious agent.. [from MeSH]

MedGen UID:
108917
Concept ID:
C0596773
Disease or Syndrome
10.

Progressive multifocal leukoencephalopathy

An opportunistic viral infection of the central nervous system associated with conditions that impair cell-mediated immunity (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME and other IMMUNOLOGIC DEFICIENCY SYNDROMES; HEMATOLOGIC NEOPLASMS; IMMUNOSUPPRESSION; and COLLAGEN DISEASES). The causative organism is JC Polyomavirus (JC VIRUS) which primarily affects oligodendrocytes, resulting in multiple areas of demyelination. Clinical manifestations include DEMENTIA; ATAXIA; visual disturbances; and other focal neurologic deficits, generally progressing to a vegetative state within 6 months. (From Joynt, Clinical Neurology, 1996, Ch26, pp36-7) [from MeSH]

MedGen UID:
7327
Concept ID:
C0023524
Disease or Syndrome
11.

Encephalitis

Encephalitis is an inflammation of the brain. Usually the cause is a viral infection, but bacteria can also cause it. It can be mild or severe. Most cases are mild. You may have flu-like symptoms. With a mild case, you may just need rest, plenty of fluids, and a pain reliever. Severe cases need immediate treatment. Symptoms of severe cases include. -Severe headache. -Sudden fever. -Drowsiness . -Vomiting. -Confusion. -Seizures. In babies, additional symptoms may include constant crying, poor feeding, body stiffness, and bulging in the soft spots of the skull. Severe cases may require a stay in the hospital. Treatments include oral and intravenous medicines to reduce inflammation and treat infection. Patients with breathing difficulties may need artificial respiration. Some people may need physical, speech, and occupational therapy once the illness is under control. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
4027
Concept ID:
C0014038
Disease or Syndrome
12.

Disorder of the central nervous system

A structural abnormality of the central nervous system. [from HPO]

MedGen UID:
3306
Concept ID:
C0007682
Disease or Syndrome
13.

CNS infection

Pathogenic infections of the brain, spinal cord, and meninges. DNA VIRUS INFECTIONS; RNA VIRUS INFECTIONS; BACTERIAL INFECTIONS; MYCOPLASMA INFECTIONS; SPIROCHAETALES INFECTIONS; fungal infections; PROTOZOAN INFECTIONS; HELMINTHIASIS; and PRION DISEASES may involve the central nervous system as a primary or secondary process. [from MeSH]

MedGen UID:
2948
Concept ID:
C0007684
Disease or Syndrome
14.

Neurologic (adult onset)

MedGen UID:
851475
Concept ID:
CN232467
Finding
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