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Genetic and Rare Diseases Information Center (GARD)

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Pontocerebellar hypoplasia type 1

Other Names for this Disease
  • Pontocerebellar hypoplasia with anterior horn cell disease
  • Pontocerebellar hypoplasia with infantile spinal muscular atrophy
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What are the symptoms of pontocerebellar hypoplasia type 1?

Pontocerebellar hypoplasia type 1 (PCH1) may first present in the prenatal period with reduced fetal movement. Polyhydramnios may also be noted. In most cases, the condition is obvious in the newborn period when respiratory insufficiency and muscle weakness present. Multiple contractures may also be present at birth, along with other motor impairment. Mental retardation and other signs of cerebellar disruption, including visual impairment, nystagmus and ataxia, may follow the initial presentation.[1]
Last updated: 4/16/2010

  1. Omar S, Ajibola A. Pontocerebellar Hypoplasia. National Organization for Rare Disorders (NORD). 2009; Accessed 4/16/2010.