cerebral palsy spastic quadriplegic type 2
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Pathology
- defects in the developing central nervous system
Genetics
- associated with defects in KANK1
Clinical manifestations
- non-progressive disorder of movement &/or posture
- affected individuals manifest congenital hypotonia evolving over the 1st year to spastic quadriplegia with accompanying transient nystagmus & varying degrees of mental retardation
Radiology
- neuroimaging shows brain atrophy & ventriculomegaly