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Results: 6

1.

Cognitive impairment

MedGen UID:
472155
Concept ID:
CN130077
Disease or Syndrome
2.

Cognitive impairment

MedGen UID:
383844
Concept ID:
C1856145
Finding
3.

Impairment

Loss or abnormality of psychological, physiological, or anatomic structure or function. [from NCI]

MedGen UID:
151925
Concept ID:
C0684336
Pathologic Function
4.

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
5.

Chronic progressive multiple sclerosis

A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) [from MeSH]

MedGen UID:
140733
Concept ID:
C0393665
Disease or Syndrome
6.

Primary progressive multiple sclerosis

MedGen UID:
155968
Concept ID:
C0751964
Disease or Syndrome

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