| NESCAV (neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment) syndrome
Neurodegeneration, spasticity, cerebellar atrophy, cortical visual impairment syndrome
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| A rare syndromic neurodegenerative syndrome characterized by infancy/childhood-onset global developmental delay, poor or absent speech, moderate to severe intellectual disability, hypotonia, progressive spasticity (mainly affecting the lower limbs and leading to walking difficulties or loss of independent ambulation), and peripheral axonal neuropathy. The clinical presentation varies among affected individuals and other major clinical features include progressive cerebellar atrophy (in some patients cerebral atrophy may also be present), postnatal microcephaly, cortical visual impairment (associated with optic atrophy), seizures, hyperreflexia, dysautonomia, ataxia, dystonia, behavioral abnormalities and feeding difficulties. Joint contractures, scoliosis and kyphosis may also be present. |
