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Items: 10

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.

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
3.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
4.

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
5.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
6.

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
7.

Cerebral white matter agenesis

Congenital defect with failure of the development of the cerebral white matter. [from HPO]

MedGen UID:
452073
Concept ID:
CN117758
Finding
8.

Agenesis of cerebral white matter

Congenital defect with failure of the development of the cerebral white matter. [from HPO]

MedGen UID:
347986
Concept ID:
C1859969
Finding; Pathologic Function
9.

CNS demyelination

MedGen UID:
336533
Concept ID:
C1849196
Finding
10.

CNS demyelination

A loss of myelin from nerve fibers in the central nervous system. [from HPO]

MedGen UID:
137898
Concept ID:
C0338474
Disease or Syndrome
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