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Results: 7

1.

Error occurred: cannot get document summary

ID:
775793

2.

phospholipase A2-associated neurodegeneration (PLAN)

MedGen UID:
760099
Concept ID:
CN181497
Disease or Syndrome
3.

Mitochondrial inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]

MedGen UID:
504838
Concept ID:
CN001305
Finding
4.

History of previous events

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
5.

Infantile neuroaxonal dystrophy

PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Classic infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with developmental regression, hypotonia, progressive psychomotor delay, and progressive spastic tetraparesis. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid. Many affected children never learn to walk or lose the ability shortly after attaining it. Severe spasticity, progressive cognitive decline, and visual impairment typically result in death during the first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability or ataxia (as in the classic form) or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism presents with subacute onset of dystonia-parkinsonism in late adolescence/early adulthood. Other findings are eye movement abnormalities, pyramidal tract signs, and marked cognitive decline. [from GeneReviews]

MedGen UID:
82852
Concept ID:
C0270724
Disease or Syndrome
6.

Falls

A fall can change your life. If you're elderly, it can lead to disability and a loss of independence. If your bones are fragile from osteoporosis, you could break a bone, often a hip. But aging alone doesn't make people fall. Diabetes and heart disease affect balance. So do problems with circulation, thyroid or nervous systems. Some medicines make people dizzy. Eye problems or alcohol can be factors. Any of these things can make a fall more likely. Babies and young children are also at risk of falling - off of furniture and down stairs, for example. Falls and accidents seldom just happen. Taking care of your health by exercising and getting regular eye exams and physicals may help reduce your chance of falling. Getting rid of tripping hazards in your home and wearing nonskid shoes may also help. To reduce the chances of breaking a bone if you do fall, make sure that you get enough calcium and vitamin D. . NIH: National Institute on Aging.  [from MedlinePlus]

MedGen UID:
39084
Concept ID:
C0085639
Finding
7.

History of fall

MedGen UID:
736087
Concept ID:
C1561668
Finding

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