Pontocerebellar hypoplasia type 2

Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.

Also known as: PCH2, progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy

11 clinical trials for this condition and its sub-types, 0 tagged with Pontocerebellar hypoplasia type 2 itself.