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Results: 6

1.

phospholipase A2-associated neurodegeneration (PLAN)

MedGen UID:
760099
Concept ID:
CN181497
Disease or Syndrome
2.

Position

An observation denoting the physical location of a person or thing based on a reference coordinate system.  [from HL7]

MedGen UID:
149196
Concept ID:
C0733755
3.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
4.

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
5.

Does not maintain a position

MedGen UID:
645188
Concept ID:
C0560767
Finding
6.

Does maintain a position

MedGen UID:
645187
Concept ID:
C0560766
Finding

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