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1.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles. [from GTR]

MedGen UID:
274
Concept ID:
C0002736
Disease or Syndrome
2.

Course of illness

The worsening of a disease over time. [from NCI]

MedGen UID:
116631
Concept ID:
C0242656
Pathologic Function
3.

Primary lateral sclerosis

A progressive neurodegenerative disorder affecting upper motor neurons, characterized by progressive muscle weakness. [from NCI]

MedGen UID:
57591
Concept ID:
C0154682
Disease or Syndrome
4.

Sclerosis

A pathological hardening or thickening of tissue, especially that of the interstitial substance. [from NCI]

MedGen UID:
48587
Concept ID:
C0036429
Pathologic Function
5.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
6.

Amyotrophic lateral sclerosis

MedGen UID:
506059
Concept ID:
CN006437
Finding
7.

Neuronal loss in central nervous system

MedGen UID:
342515
Concept ID:
C1850496
Finding
8.

progressive disease

A disease process that is increasing in scope or severity. [from NCI]

MedGen UID:
277534
Concept ID:
C1335499
Disease or Syndrome
9.

Immune

Protected against infectious disease by either specific or non-specific mechanisms.(On-line Medical Dictionary) [from NCI]

MedGen UID:
98553
Concept ID:
C0439662
Finding
10.

Recruitment

MedGen UID:
78772
Concept ID:
C0271510
Disease or Syndrome
11.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
12.

Progressive

Advancing in extent or severity. [from NCI]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
13.

Lateral

Situated at or extending to the side. [from NCI]

MedGen UID:
64373
Concept ID:
C0205093
Spatial Concept
14.

Retinitis pigmentosa

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). Juvenile Retinitis Pigmentosa Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863), and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively). An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused by mutation in the AIPL1 gene (604392). [from GTR]

MedGen UID:
20551
Concept ID:
C0035334
Disease or Syndrome
15.

TDP-43 Proteinopathies

Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease. [from MeSH]

MedGen UID:
439336
Concept ID:
C2718017
Disease or Syndrome
16.

Proteostasis Deficiencies

Disorders caused by imbalances in the PROTEIN HOMEOSTASIS network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. [from MeSH]

MedGen UID:
403490
Concept ID:
C2718000
Cell or Molecular Dysfunction
17.

Gene Regulatory Networks

Interacting DNA-encoded regulatory subsystems in the GENOME that coordinate input from activator and repressor TRANSCRIPTION FACTORS during development, cell differentiation, or in response to environmental cues. The networks function to ultimately specify expression of particular sets of GENES for specific conditions, times, or locations. [from MeSH]

MedGen UID:
354547
Concept ID:
C1720950
Molecular Function
18.

Metabolic Networks and Pathways

Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites. [from MeSH]

MedGen UID:
328456
Concept ID:
C1721099
Molecular Function
19.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
20.

Mediator of inflammation

The endogenous compounds that mediate inflammation (AUTACOIDS) and related exogenous compounds including the synthetic prostaglandins (PROSTAGLANDINS, SYNTHETIC). [from MeSH]

MedGen UID:
66209
Concept ID:
C0243042
Pharmacologic Substance
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